Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125788867C= , CM000672.2:g.125788867C=	GRCh38
NC_000010.10:g.127477436C= , CM000672.1:g.127477436C=	GRCh37
NC_000010.9:g.127467426C=	NCBI36
NG_011557.1:g.39402G=
NG_011557.2:g.39402G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713579.1:c.*1G=	ENSP00000518871.1:n.*1G=
ENST00000368797.10:c.*1G= MANE Select	ENSP00000357787.4:n.*1G=
ENST00000465577.6:c.819G=
ENST00000648427.1:c.*797G=	ENSP00000497909.1:n.*797G=
ENST00000649536.1:c.*1G=	ENSP00000497817.1:n.*1G=
ENST00000650472.1:n.3185G=
ENST00000650524.1:c.712G=	ENSP00000498108.1:n.712G=
ENST00000650587.1:c.*1G=	ENSP00000497366.1:n.*1G=
ENST00000368786.5:c.*1G=	ENSP00000357775.1:n.*1G=
ENST00000368797.8:c.*1G=	ENSP00000357787.4:n.*1G=
ENST00000464267.1:n.896G=
ENST00000465577.5:n.441G=
ENST00000470483.1:n.487G=
ENST00000484541.5:n.572G=
ENST00000616800.4:c.161-3607G=
ENST00000622016.4:c.241-3028G=	ENSP00000483041.1:n.241-3028G=
NM_000375.2:c.*1G=	NP_000366.1:n.*1G=
XM_005270137.2:c.*1G=	XP_005270194.1:n.*1G=
XM_005270138.2:c.*1G=	XP_005270195.1:n.*1G=
XM_005270139.2:c.661-3028G=	XP_005270196.1:n.661-3028G=
XM_006717960.2:c.*1G=	XP_006718023.1:n.*1G=
XM_011540127.1:c.661-3607G=	XP_011538429.1:n.661-3607G=
XR_246103.2:n.979G=
XR_945810.1:n.1209G=
NM_000375.3:c.*1G= MANE Select	NP_000366.1:n.*1G=
NM_001324036.1:c.*1G=	NP_001310965.1:n.*1G=
NM_001324037.1:c.*1G=	NP_001310966.1:n.*1G=
NM_001324038.1:c.*1G=	NP_001310967.1:n.*1G=
NR_136675.1:n.884G=
NR_136676.1:n.1311G=
NR_136677.1:n.927-3028G=
NR_136678.1:n.795G=
XM_011540127.2:c.661-3607G=	XP_011538429.1:n.661-3607G=
XM_017016611.2:c.*1G=	XP_016872100.2:n.*1G=
XM_017016612.2:c.661-3028G=	XP_016872101.1:n.661-3028G=
XM_024448154.1:c.*1G=	XP_024303922.1:n.*1G=
XR_002957010.1:n.2138G=
XR_246103.3:n.994G=
XR_945810.2:n.1224G=
NM_001324036.2:c.*1G=	NP_001310965.1:n.*1G=
NM_001324037.2:c.*1G=	NP_001310966.1:n.*1G=
NM_001324038.2:c.*1G=	NP_001310967.1:n.*1G=
NR_136675.2:n.874G=
NR_136676.2:n.1301G=
NR_136678.2:n.785G=
NR_136677.2:n.917-3028G=