Canonical Allele Identifier: CA2210140844

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154897G= , CM000678.2:g.16154897G=	GRCh38
NC_000016.9:g.16248754G= , CM000678.1:g.16248754G=	GRCh37
NC_000016.8:g.16156255G=	NCBI36
NG_007558.2:g.73575C=
NG_007558.3:g.73721C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.880C=
ENST00000622290.5:c.*189C=	ENSP00000483331.2:n.*189C=
ENST00000205557.12:c.4017C= MANE Select	ENSP00000205557.7:p.Arg1339=
ENST00000640696.1:c.831C=	ENSP00000492197.1:p.Arg277=
ENST00000205557.11:c.4017C=	ENSP00000205557.7:p.Arg1339=
ENST00000456970.6:c.3642C=	ENSP00000405002.2:n.3642C=
ENST00000576204.5:n.880C=
ENST00000622290.4:c.*1226C=	ENSP00000483331.1:n.*1226C=
NM_001171.5:c.4017C=	NP_001162.4:p.Arg1339=
XM_011522479.1:c.3984C=	XP_011520781.1:p.Arg1328=
XM_011522480.1:c.3675C=	XP_011520782.1:p.Arg1225=
XM_011522481.1:c.3675C=	XP_011520783.1:p.Arg1225=
XR_933134.1:n.539-4884G=
NM_001351800.1:c.3675C=	NP_001338729.1:p.Arg1225=
NR_147784.1:n.3679C=
XM_011522479.2:c.3984C=	XP_011520781.1:p.Arg1328=
XM_011522481.3:c.3675C=	XP_011520783.1:p.Arg1225=
XM_017023212.1:c.3849C=	XP_016878701.1:p.Arg1283=
XM_024450261.1:c.4053C=	XP_024306029.1:p.Arg1351=
NM_001171.6:c.4017C= MANE Select	NP_001162.5:p.Arg1339=