Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46023916G>A , CM000679.2:g.46023916G>A	GRCh38
NC_000017.10:g.44101282G>A , CM000679.1:g.44101282G>A	GRCh37
NC_000017.9:g.41457127G>A	NCBI36
NG_007398.1:g.134504G>A
NG_007398.2:g.134454G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000420682.7:c.1024-40G>A	ENSP00000413056.2:n.1024-40G>A
ENST00000703922.1:c.1024-40G>A	ENSP00000515557.1:n.1024-40G>A
ENST00000703923.1:c.937-40G>A	ENSP00000515558.1:n.937-40G>A
ENST00000703924.1:c.1024-40G>A	ENSP00000515559.1:n.1024-40G>A
ENST00000703978.1:c.1111-40G>A	ENSP00000515600.1:n.1111-40G>A
ENST00000703980.1:n.337-40G>A
ENST00000703981.1:n.295-40G>A
ENST00000703982.1:n.529-40G>A
ENST00000262410.10:c.2287-40G>A MANE Select	ENSP00000262410.6:n.2287-40G>A
ENST00000344290.10:c.1996-40G>A	ENSP00000340820.6:n.1996-40G>A
ENST00000351559.10:c.1111-40G>A	ENSP00000303214.7:n.1111-40G>A
ENST00000535772.6:c.931-40G>A	ENSP00000443028.2:n.931-40G>A
ENST00000680542.1:c.1024-40G>A	ENSP00000505258.1:n.1024-40G>A
ENST00000680674.1:c.1060-40G>A	ENSP00000505478.1:n.1060-40G>A
ENST00000262410.9:c.2062-40G>A	ENSP00000262410.5:n.2062-40G>A
ENST00000334239.12:c.844-40G>A	ENSP00000334886.8:n.844-40G>A
ENST00000340799.9:c.1024-40G>A	ENSP00000340438.5:n.1024-40G>A
ENST00000344290.9:c.2116-40G>A	ENSP00000340820.5:n.2116-40G>A
ENST00000351559.9:c.1111-40G>A	ENSP00000303214.7:n.1111-40G>A
ENST00000415613.6:c.2116-40G>A	ENSP00000410838.2:n.2116-40G>A
ENST00000420682.6:c.1024-40G>A	ENSP00000413056.2:n.1024-40G>A
ENST00000431008.7:c.1018-40G>A	ENSP00000389250.3:n.1018-40G>A
ENST00000446361.7:c.937-40G>A	ENSP00000408975.3:n.937-40G>A
ENST00000535772.5:c.1018-40G>A	ENSP00000443028.1:n.1018-40G>A
ENST00000571987.5:c.2062-40G>A	ENSP00000458742.1:n.2062-40G>A
ENST00000574436.5:c.1111-40G>A	ENSP00000460965.1:n.1111-40G>A
ENST00000576518.1:n.6303-40G>A
NM_001123066.3:c.2116-40G>A	NP_001116538.2:n.2116-40G>A
NM_001123067.3:c.1024-40G>A	NP_001116539.1:n.1024-40G>A
NM_001203251.1:c.931-40G>A	NP_001190180.1:n.931-40G>A
NM_001203252.1:c.1018-40G>A	NP_001190181.1:n.1018-40G>A
NM_005910.5:c.1111-40G>A	NP_005901.2:n.1111-40G>A
NM_016834.4:c.937-40G>A	NP_058518.1:n.937-40G>A
NM_016835.4:c.2062-40G>A	NP_058519.3:n.2062-40G>A
NM_016841.4:c.844-40G>A	NP_058525.1:n.844-40G>A
XM_005257362.3:c.2374-40G>A	XP_005257419.1:n.2374-40G>A
XM_005257364.3:c.2287-40G>A	XP_005257421.1:n.2287-40G>A
XM_005257365.3:c.2281-40G>A	XP_005257422.1:n.2281-40G>A
XM_005257366.2:c.2200-40G>A	XP_005257423.1:n.2200-40G>A
XM_005257367.3:c.2176-40G>A	XP_005257424.1:n.2176-40G>A
XM_005257368.3:c.2083-40G>A	XP_005257425.1:n.2083-40G>A
XM_005257369.3:c.1309-40G>A	XP_005257426.1:n.1309-40G>A
XM_005257370.3:c.1222-40G>A	XP_005257427.1:n.1222-40G>A
XM_005257371.3:c.1135-40G>A	XP_005257428.1:n.1135-40G>A
XM_005257362.4:c.2374-40G>A	XP_005257419.1:n.2374-40G>A
XM_005257364.4:c.2287-40G>A	XP_005257421.1:n.2287-40G>A
XM_005257365.4:c.2281-40G>A	XP_005257422.1:n.2281-40G>A
XM_005257366.3:c.2200-40G>A	XP_005257423.1:n.2200-40G>A
XM_005257367.4:c.2176-40G>A	XP_005257424.1:n.2176-40G>A
XM_005257368.4:c.2083-40G>A	XP_005257425.1:n.2083-40G>A
XM_005257369.4:c.1309-40G>A	XP_005257426.1:n.1309-40G>A
XM_005257370.4:c.1222-40G>A	XP_005257427.1:n.1222-40G>A
XM_005257371.4:c.1135-40G>A	XP_005257428.1:n.1135-40G>A
NM_001203251.2:c.931-40G>A	NP_001190180.1:n.931-40G>A
NM_001377265.1:c.2287-40G>A MANE Select	NP_001364194.1:n.2287-40G>A
NM_001377266.1:c.1996-40G>A	NP_001364195.1:n.1996-40G>A
NM_001377267.1:c.772-1201G>A	NP_001364196.1:n.772-1201G>A
NM_001377268.1:c.844-40G>A	NP_001364197.1:n.844-40G>A
NM_016834.5:c.937-40G>A	NP_058518.1:n.937-40G>A
NM_016841.5:c.844-40G>A	NP_058525.1:n.844-40G>A
NR_165166.1:n.942-40G>A
NM_001123066.4:c.2116-40G>A	NP_001116538.2:n.2116-40G>A
NM_001123067.4:c.1024-40G>A	NP_001116539.1:n.1024-40G>A
NM_001203252.2:c.1018-40G>A	NP_001190181.1:n.1018-40G>A
NM_005910.6:c.1111-40G>A	NP_005901.2:n.1111-40G>A
NM_016835.5:c.2062-40G>A	NP_058519.3:n.2062-40G>A

Linked Data

Genomic Alleles

Transcript Alleles