Canonical Allele Identifier: CA2210133367

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149749G= , CM000678.2:g.16149749G=	GRCh38
NC_000016.9:g.16243606G= , CM000678.1:g.16243606G=	GRCh37
NC_000016.8:g.16151107G=	NCBI36
NG_007558.2:g.78723C=
NG_007558.3:g.78869C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*1068C=	ENSP00000483331.2:n.*1068C=
ENST00000205557.12:c.*384C= MANE Select	ENSP00000205557.7:n.*384C=
ENST00000640696.1:c.1710C=	ENSP00000492197.1:n.1710C=
ENST00000205557.11:c.*384C=	ENSP00000205557.7:n.*384C=
ENST00000576204.5:n.1759C=
ENST00000622290.4:c.*2105C=	ENSP00000483331.1:n.*2105C=
NM_001171.5:c.*384C=	NP_001162.4:n.*384C=
XM_011522479.1:c.*384C=	XP_011520781.1:n.*384C=
XM_011522480.1:c.*384C=	XP_011520782.1:n.*384C=
XM_011522481.1:c.*384C=	XP_011520783.1:n.*384C=
XR_933134.1:n.538+5459G=
NM_001351800.1:c.*384C=	NP_001338729.1:n.*384C=
NR_147784.1:n.4558C=
XM_011522479.2:c.*384C=	XP_011520781.1:n.*384C=
XM_011522481.3:c.*384C=	XP_011520783.1:n.*384C=
XM_017023212.1:c.*384C=	XP_016878701.1:n.*384C=
XM_024450261.1:c.*384C=	XP_024306029.1:n.*384C=
NM_001171.6:c.*384C= MANE Select	NP_001162.5:n.*384C=