Canonical Allele Identifier: CA2210140483

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154660C= , CM000678.2:g.16154660C=	GRCh38
NC_000016.9:g.16248517C= , CM000678.1:g.16248517C=	GRCh37
NC_000016.8:g.16156018C=	NCBI36
NG_007558.2:g.73812G=
NG_007558.3:g.73958G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*348G=	ENSP00000483331.2:n.*348G=
ENST00000205557.12:c.4176G= MANE Select	ENSP00000205557.7:p.Gln1392=
ENST00000640696.1:c.990G=	ENSP00000492197.1:p.Gln330=
ENST00000205557.11:c.4176G=	ENSP00000205557.7:p.Gln1392=
ENST00000456970.6:c.3801G=	ENSP00000405002.2:n.3801G=
ENST00000576204.5:n.1039G=
ENST00000622290.4:c.*1385G=	ENSP00000483331.1:n.*1385G=
NM_001171.5:c.4176G=	NP_001162.4:p.Gln1392=
XM_011522479.1:c.4143G=	XP_011520781.1:p.Gln1381=
XM_011522480.1:c.3834G=	XP_011520782.1:p.Gln1278=
XM_011522481.1:c.3834G=	XP_011520783.1:p.Gln1278=
XR_933134.1:n.539-5121C=
NM_001351800.1:c.3834G=	NP_001338729.1:p.Gln1278=
NR_147784.1:n.3838G=
XM_011522479.2:c.4143G=	XP_011520781.1:p.Gln1381=
XM_011522481.3:c.3834G=	XP_011520783.1:p.Gln1278=
XM_017023212.1:c.4008G=	XP_016878701.1:p.Gln1336=
XM_024450261.1:c.4212G=	XP_024306029.1:p.Gln1404=
NM_001171.6:c.4176G= MANE Select	NP_001162.5:p.Gln1392=