Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6604283T>A , CM000673.2:g.6604283T>A	GRCh38
NC_000011.9:g.6625513T>A , CM000673.1:g.6625513T>A	GRCh37
NC_000011.8:g.6582089T>A	NCBI36
NG_029702.1:g.5550T>A , LRG_444:g.5550T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299421.9:c.12T>A MANE Select	ENSP00000299421.4:p.Ile4=
ENST00000299421.8:c.12T>A	ENSP00000299421.3:p.Ile4=
ENST00000396751.6:c.12T>A	ENSP00000379975.2:p.Ile4=
ENST00000420936.6:c.12T>A	ENSP00000403487.2:p.Ile4=
ENST00000526114.5:c.12T>A	ENSP00000432617.1:p.Ile4=
ENST00000526711.5:c.12T>A	ENSP00000479932.1:p.Ile4=
ENST00000527121.5:c.12T>A	ENSP00000436062.1:p.Ile4=
ENST00000528995.5:c.12T>A	ENSP00000435323.1:p.Ile4=
ENST00000530016.5:n.153T>A
ENST00000532063.5:c.-225T>A	ENSP00000434492.2:n.-225T>A
ENST00000534565.1:n.131T>A
ENST00000537806.5:c.12T>A	ENSP00000439606.2:p.Ile4=
ENST00000627400.1:c.12T>A	ENSP00000487498.1:p.Ile4=
NM_001014794.2:c.12T>A	NP_001014794.1:p.Ile4=
NM_001014795.2:c.12T>A	NP_001014795.1:p.Ile4=
NM_001278441.1:c.12T>A	NP_001265370.1:p.Ile4=
NM_001278442.1:c.-225T>A	NP_001265371.1:n.-225T>A
NM_004517.3:c.12T>A	NP_004508.1:p.Ile4=
XM_005252904.3:c.12T>A	XP_005252961.1:p.Ile4=
XM_005252905.1:c.-225T>A	XP_005252962.1:n.-225T>A
XM_011520065.1:c.12T>A	XP_011518367.1:p.Ile4=
XM_005252904.5:c.12T>A	XP_005252961.1:p.Ile4=
XM_005252905.3:c.-225T>A	XP_005252962.1:n.-225T>A
XM_017017672.1:c.-170T>A	XP_016873161.1:n.-170T>A
XM_024448494.1:c.12T>A	XP_024304262.1:p.Ile4=
XM_024448495.1:c.12T>A	XP_024304263.1:p.Ile4=
XM_024448496.1:c.12T>A	XP_024304264.1:p.Ile4=
XM_024448497.1:c.12T>A	XP_024304265.1:p.Ile4=
XM_024448498.1:c.-170T>A	XP_024304266.1:n.-170T>A
XM_024448499.1:c.-261T>A	XP_024304267.1:n.-261T>A
XM_024448500.1:c.-225T>A	XP_024304268.1:n.-225T>A
NM_001014794.3:c.12T>A	NP_001014794.1:p.Ile4=
NM_001014795.3:c.12T>A	NP_001014795.1:p.Ile4=
NM_001278441.2:c.12T>A	NP_001265370.1:p.Ile4=
NM_004517.4:c.12T>A MANE Select	NP_004508.1:p.Ile4=
NM_001278442.2:c.-225T>A	NP_001265371.1:n.-225T>A