Canonical Allele Identifier: CA2210134863

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150607G= , CM000678.2:g.16150607G=	GRCh38
NC_000016.9:g.16244464G= , CM000678.1:g.16244464G=	GRCh37
NC_000016.8:g.16151965G=	NCBI36
NG_007558.2:g.77865C=
NG_007558.3:g.78011C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*546C=	ENSP00000483331.2:n.*546C=
ENST00000205557.12:c.4374C= MANE Select	ENSP00000205557.7:p.His1458=
ENST00000640696.1:c.1188C=	ENSP00000492197.1:p.His396=
ENST00000205557.11:c.4374C=	ENSP00000205557.7:p.His1458=
ENST00000456970.6:c.3999C=	ENSP00000405002.2:n.3999C=
ENST00000576204.5:n.1237C=
ENST00000622290.4:c.*1583C=	ENSP00000483331.1:n.*1583C=
NM_001171.5:c.4374C=	NP_001162.4:p.His1458=
XM_011522479.1:c.4341C=	XP_011520781.1:p.His1447=
XM_011522480.1:c.4032C=	XP_011520782.1:p.His1344=
XM_011522481.1:c.4032C=	XP_011520783.1:p.His1344=
XR_933134.1:n.538+6317G=
NM_001351800.1:c.4032C=	NP_001338729.1:p.His1344=
NR_147784.1:n.4036C=
XM_011522479.2:c.4341C=	XP_011520781.1:p.His1447=
XM_011522481.3:c.4032C=	XP_011520783.1:p.His1344=
XM_017023212.1:c.4206C=	XP_016878701.1:p.His1402=
XM_024450261.1:c.4410C=	XP_024306029.1:p.His1470=
NM_001171.6:c.4374C= MANE Select	NP_001162.5:p.His1458=