Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076615T= , CM000676.2:g.65076615T=	GRCh38
NC_000014.8:g.65543333T= , CM000676.1:g.65543333T=	GRCh37
NC_000014.7:g.64613086T=	NCBI36
NG_029830.1:g.30895A= , LRG_530:g.30895A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.125A=	ENSP00000452206.2:p.Tyr42=
ENST00000556979.6:c.*797A=	ENSP00000452378.1:n.*797A=
ENST00000358664.9:c.344A= MANE Select	ENSP00000351490.4:p.Tyr115=
ENST00000651648.1:c.145-6246A=	ENSP00000498863.1:n.145-6246A=
ENST00000284165.10:c.*1188A=	ENSP00000284165.6:n.*1188A=
ENST00000341653.6:c.171+17093A=	ENSP00000342482.2:n.171+17093A=
ENST00000358402.8:c.317A=	ENSP00000351175.4:p.Tyr106=
ENST00000358664.8:c.344A=	ENSP00000351490.4:p.Tyr115=
ENST00000394606.6:c.*117A=	ENSP00000378104.2:n.*117A=
ENST00000553928.5:c.*133A=	ENSP00000451907.1:n.*133A=
ENST00000555419.5:c.236A=	ENSP00000452405.1:p.Tyr79=
ENST00000555932.5:c.85A=	ENSP00000450763.1:p.Thr29=
ENST00000556892.5:c.125A=	ENSP00000452206.1:p.Tyr42=
ENST00000557277.5:c.155A=	ENSP00000450955.1:p.Tyr52=
ENST00000618858.4:c.*133A=	ENSP00000480127.1:n.*133A=
NM_001271069.1:c.144+17093A=	NP_001257998.1:n.144+17093A=
NM_002382.4:c.344A=	NP_002373.3:p.Tyr115=
NM_145112.2:c.317A=	NP_660087.1:p.Tyr106=
NM_145113.2:c.*133A=	NP_660088.1:n.*133A=
NM_197957.3:c.171+17093A=	NP_932061.1:n.171+17093A=
NR_073137.1:n.468A=
XR_429315.2:n.631A=
XR_943450.1:n.712A=
XR_943451.1:n.728A=
XR_943452.1:n.674A=
NM_001320415.1:c.155A=	NP_001307344.1:p.Tyr52=
XM_017021312.2:c.155A=	XP_016876801.1:p.Tyr52=
XM_017021313.1:c.155A=	XP_016876802.1:p.Tyr52=
XR_001750326.2:n.689A=
XR_001750327.2:n.608A=
XR_002957553.1:n.1122A=
XR_943450.3:n.712A=
XR_943451.3:n.728A=
XR_943452.3:n.673A=
NM_001320415.2:c.155A=	NP_001307344.1:p.Tyr52=
NM_002382.5:c.344A= MANE Select	NP_002373.3:p.Tyr115=
NM_145112.3:c.317A=	NP_660087.1:p.Tyr106=
NM_145113.3:c.*133A=	NP_660088.1:n.*133A=
NM_001271069.2:c.144+17093A=	NP_001257998.1:n.144+17093A=
NM_197957.4:c.171+17093A=	NP_932061.1:n.171+17093A=