Canonical Allele Identifier: CA2210133954

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150155G= , CM000678.2:g.16150155G=	GRCh38
NC_000016.9:g.16244012G= , CM000678.1:g.16244012G=	GRCh37
NC_000016.8:g.16151513G=	NCBI36
NG_007558.2:g.78317C=
NG_007558.3:g.78463C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*662C=	ENSP00000483331.2:n.*662C=
ENST00000205557.12:c.4490C= MANE Select	ENSP00000205557.7:p.Ala1497=
ENST00000640696.1:c.1304C=	ENSP00000492197.1:p.Ala435=
ENST00000205557.11:c.4490C=	ENSP00000205557.7:p.Ala1497=
ENST00000456970.6:c.4115C=	ENSP00000405002.2:n.4115C=
ENST00000576204.5:n.1353C=
ENST00000622290.4:c.*1699C=	ENSP00000483331.1:n.*1699C=
NM_001171.5:c.4490C=	NP_001162.4:p.Ala1497=
XM_011522479.1:c.4457C=	XP_011520781.1:p.Ala1486=
XM_011522480.1:c.4148C=	XP_011520782.1:p.Ala1383=
XM_011522481.1:c.4148C=	XP_011520783.1:p.Ala1383=
XR_933134.1:n.538+5865G=
NM_001351800.1:c.4148C=	NP_001338729.1:p.Ala1383=
NR_147784.1:n.4152C=
XM_011522479.2:c.4457C=	XP_011520781.1:p.Ala1486=
XM_011522481.3:c.4148C=	XP_011520783.1:p.Ala1383=
XM_017023212.1:c.4322C=	XP_016878701.1:p.Ala1441=
XM_024450261.1:c.4526C=	XP_024306029.1:p.Ala1509=
NM_001171.6:c.4490C= MANE Select	NP_001162.5:p.Ala1497=