Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911318A= , CM000679.2:g.44911318A=	GRCh38
NC_000017.10:g.42988686A= , CM000679.1:g.42988686A=	GRCh37
NC_000017.9:g.40344212A=	NCBI36
NG_008401.1:g.9229T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1045T=	ENSP00000253408.5:p.Tyr349=
ENST00000435360.8:c.1045T=	ENSP00000403962.1:p.Tyr349=
ENST00000253408.10:c.1045T=	ENSP00000253408.5:p.Tyr349=
ENST00000435360.7:c.1045T=	ENSP00000403962.1:p.Tyr349=
ENST00000585543.6:n.198T=
ENST00000586127.6:n.1574T=
ENST00000586793.6:c.910T=	ENSP00000468500.2:p.Tyr304=
ENST00000587997.6:n.521T=
ENST00000588735.3:c.1045T= MANE Select	ENSP00000466598.2:p.Tyr349=
ENST00000591327.2:n.2199T=
ENST00000592320.6:c.622T=	ENSP00000465320.1:p.Tyr208=
ENST00000638281.1:c.1045T=	ENSP00000491088.1:p.Tyr349=
ENST00000638618.1:c.700T=	ENSP00000492832.1:p.Tyr234=
ENST00000639277.1:c.1045T=	ENSP00000492432.1:p.Tyr349=
ENST00000639921.1:c.2T=
ENST00000640552.1:n.1059T=
ENST00000253408.9:c.1045T=	ENSP00000253408.4:p.Tyr349=
ENST00000376990.8:c.*444T=	ENSP00000366189.4:n.*444T=
ENST00000435360.6:c.1045T=	ENSP00000403962.1:p.Tyr349=
ENST00000585543.5:n.198T=
ENST00000586793.5:c.1045T=	ENSP00000468500.1:p.Tyr349=
ENST00000587997.5:c.521T=
ENST00000588640.5:n.425T=
ENST00000588735.1:c.83-3202T=	ENSP00000466598.1:n.83-3202T=
ENST00000592320.5:c.622T=	ENSP00000465320.1:p.Tyr208=
NM_001131019.2:c.1045T=	NP_001124491.1:p.Tyr349=
NM_001242376.1:c.1045T=	NP_001229305.1:p.Tyr349=
NM_002055.4:c.1045T=	NP_002046.1:p.Tyr349=
NM_001363846.1:c.1045T=	NP_001350775.1:p.Tyr349=
XM_024450690.1:c.1249T=	XP_024306458.1:p.Tyr417=
XM_024450691.1:c.1249T=	XP_024306459.1:p.Tyr417=
XM_024450692.1:c.1249T=	XP_024306460.1:p.Tyr417=
XM_024450693.1:c.1249T=	XP_024306461.1:p.Tyr417=
NM_002055.5:c.1045T= MANE Select	NP_002046.1:p.Tyr349=
NM_001131019.3:c.1045T=	NP_001124491.1:p.Tyr349=
NM_001242376.2:c.1045T=	NP_001229305.1:p.Tyr349=
NM_001242376.3:c.1045T=	NP_001229305.1:p.Tyr349=
NM_001363846.2:c.1045T=	NP_001350775.1:p.Tyr349=