Canonical Allele Identifier: CA2272504812

Gene: ABCA6

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69085137A= , CM000679.2:g.69085137A=	GRCh38
NC_000017.10:g.67081278A= , CM000679.1:g.67081278A=	GRCh37
NC_000017.9:g.64592873A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_080284.3:c.4075T= MANE Select	NP_525023.2:p.Cys1359=
ENST00000284425.7:c.4075T= MANE Select	ENSP00000284425.1:p.Cys1359=
NM_080284.2:c.4075T=	NP_525023.2:p.Cys1359=
ENST00000284425.6:c.4075T=	ENSP00000284425.1:p.Cys1359=
ENST00000446604.6:n.1341T=
XM_006721791.2:c.3955T=	XP_006721854.1:p.Cys1319=
XM_006721793.2:c.3124T=	XP_006721856.1:p.Cys1042=
XM_011524573.1:c.4075T=	XP_011522875.1:p.Cys1359=
XM_011524574.1:c.3124T=	XP_011522876.1:p.Cys1042=
XM_011524574.2:c.3124T=	XP_011522876.1:p.Cys1042=
XM_017024404.2:c.4075T=	XP_016879893.1:p.Cys1359=
XM_017024405.2:c.4075T=	XP_016879894.1:p.Cys1359=
XM_017024406.1:c.3490T=	XP_016879895.1:p.Cys1164=
XM_017024407.1:c.3490T=	XP_016879896.1:p.Cys1164=
XM_017024408.2:c.2020T=	XP_016879897.1:p.Cys674=
XM_024450683.1:c.4075T=	XP_024306451.1:p.Cys1359=