Canonical Allele Identifier: CA2210134850

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150606G= , CM000678.2:g.16150606G=	GRCh38
NC_000016.9:g.16244463G= , CM000678.1:g.16244463G=	GRCh37
NC_000016.8:g.16151964G=	NCBI36
NG_007558.2:g.77866C=
NG_007558.3:g.78012C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.4375C= MANE Select	NP_001162.5:p.Arg1459=
ENST00000205557.12:c.4375C= MANE Select	ENSP00000205557.7:p.Arg1459=
NM_001171.5:c.4375C=	NP_001162.4:p.Arg1459=
NM_001351800.1:c.4033C=	NP_001338729.1:p.Arg1345=
NR_147784.1:n.4037C=
ENST00000205557.11:c.4375C=	ENSP00000205557.7:p.Arg1459=
ENST00000456970.6:c.4000C=	ENSP00000405002.2:n.4000C=
ENST00000576204.5:n.1238C=
ENST00000622290.4:c.*1584C=	ENSP00000483331.1:n.*1584C=
ENST00000622290.5:c.*547C=	ENSP00000483331.2:n.*547C=
ENST00000640696.1:c.1189C=	ENSP00000492197.1:p.Arg397=
XM_011522479.1:c.4342C=	XP_011520781.1:p.Arg1448=
XM_011522479.2:c.4342C=	XP_011520781.1:p.Arg1448=
XM_011522480.1:c.4033C=	XP_011520782.1:p.Arg1345=
XM_011522481.1:c.4033C=	XP_011520783.1:p.Arg1345=
XM_011522481.3:c.4033C=	XP_011520783.1:p.Arg1345=
XM_017023212.1:c.4207C=	XP_016878701.1:p.Arg1403=
XM_024450261.1:c.4411C=	XP_024306029.1:p.Arg1471=
XR_933134.1:n.538+6316G=