Canonical Allele Identifier: CA2210140502

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154682G= , CM000678.2:g.16154682G=	GRCh38
NC_000016.9:g.16248539G= , CM000678.1:g.16248539G=	GRCh37
NC_000016.8:g.16156040G=	NCBI36
NG_007558.2:g.73790C=
NG_007558.3:g.73936C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*326C=	ENSP00000483331.2:n.*326C=
ENST00000205557.12:c.4154C= MANE Select	ENSP00000205557.7:p.Ala1385=
ENST00000640696.1:c.968C=	ENSP00000492197.1:p.Ala323=
ENST00000205557.11:c.4154C=	ENSP00000205557.7:p.Ala1385=
ENST00000456970.6:c.3779C=	ENSP00000405002.2:n.3779C=
ENST00000576204.5:n.1017C=
ENST00000622290.4:c.*1363C=	ENSP00000483331.1:n.*1363C=
NM_001171.5:c.4154C=	NP_001162.4:p.Ala1385=
XM_011522479.1:c.4121C=	XP_011520781.1:p.Ala1374=
XM_011522480.1:c.3812C=	XP_011520782.1:p.Ala1271=
XM_011522481.1:c.3812C=	XP_011520783.1:p.Ala1271=
XR_933134.1:n.539-5099G=
NM_001351800.1:c.3812C=	NP_001338729.1:p.Ala1271=
NR_147784.1:n.3816C=
XM_011522479.2:c.4121C=	XP_011520781.1:p.Ala1374=
XM_011522481.3:c.3812C=	XP_011520783.1:p.Ala1271=
XM_017023212.1:c.3986C=	XP_016878701.1:p.Ala1329=
XM_024450261.1:c.4190C=	XP_024306029.1:p.Ala1397=
NM_001171.6:c.4154C= MANE Select	NP_001162.5:p.Ala1385=