Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74890543T= , CM000677.2:g.74890543T=	GRCh38
NC_000015.9:g.75182884T= , CM000677.1:g.75182884T=	GRCh37
NC_000015.8:g.72969937T=	NCBI36
NG_008921.1:g.5475T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352410.9:c.33T= MANE Select	ENSP00000318318.6:p.Cys11=
ENST00000323744.10:c.33T=	ENSP00000318192.6:p.Cys11=
ENST00000352410.8:c.33T=	ENSP00000318318.6:p.Cys11=
ENST00000535694.5:c.-7+454T=	ENSP00000440447.1:n.-7+454T=
ENST00000561470.5:c.145T=	ENSP00000454267.1:p.Cys49=
ENST00000562606.5:c.-18-10T=	ENSP00000457020.1:n.-18-10T=
ENST00000562800.5:c.33T=	ENSP00000457619.1:p.Cys11=
ENST00000563422.5:c.33T=	ENSP00000457885.1:p.Cys11=
ENST00000563786.5:c.-28T=	ENSP00000455241.1:n.-28T=
ENST00000564003.5:c.-7+454T=	ENSP00000454312.1:n.-7+454T=
ENST00000564633.5:c.-15-13T=	ENSP00000455383.1:n.-15-13T=
ENST00000565576.5:c.33T=	ENSP00000454619.1:p.Cys11=
ENST00000566377.5:c.33T=	ENSP00000455405.1:p.Cys11=
ENST00000567116.5:n.64T=
ENST00000567132.5:c.33T=	ENSP00000455972.1:p.Cys11=
ENST00000567570.5:c.-28T=	ENSP00000455477.1:n.-28T=
ENST00000568303.1:n.150T=
ENST00000568828.5:c.33T=	ENSP00000455065.1:p.Cys11=
ENST00000568840.1:n.142T=
ENST00000568907.5:c.33T=	ENSP00000457494.1:p.Cys11=
ENST00000569233.5:c.33T=	ENSP00000454622.1:p.Cys11=
ENST00000569931.5:c.-18-10T=	ENSP00000455161.1:n.-18-10T=
NM_001289155.1:c.33T=	NP_001276084.1:p.Cys11=
NM_001289156.1:c.-7+454T=	NP_001276085.1:n.-7+454T=
NM_001289157.1:c.33T=	NP_001276086.1:p.Cys11=
NM_002435.2:c.33T=	NP_002426.1:p.Cys11=
XM_011521592.1:c.21T=	XP_011519894.1:p.Cys7=
XM_011521593.1:c.-28T=	XP_011519895.1:n.-28T=
NM_001330372.1:c.-28T=	NP_001317301.1:n.-28T=
XM_017022208.1:c.-28T=	XP_016877697.1:n.-28T=
XM_017022209.2:c.-7+454T=	XP_016877698.1:n.-7+454T=
NM_002435.3:c.33T= MANE Select	NP_002426.1:p.Cys11=
NM_001289155.2:c.33T=	NP_001276084.1:p.Cys11=
NM_001289156.2:c.-7+454T=	NP_001276085.1:n.-7+454T=
NM_001289157.2:c.33T=	NP_001276086.1:p.Cys11=
NM_001330372.2:c.-28T=	NP_001317301.1:n.-28T=