Canonical Allele Identifier: CA2210140519

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154705C= , CM000678.2:g.16154705C=	GRCh38
NC_000016.9:g.16248562C= , CM000678.1:g.16248562C=	GRCh37
NC_000016.8:g.16156063C=	NCBI36
NG_007558.2:g.73767G=
NG_007558.3:g.73913G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*303G=	ENSP00000483331.2:n.*303G=
ENST00000205557.12:c.4131G= MANE Select	ENSP00000205557.7:p.Thr1377=
ENST00000640696.1:c.945G=	ENSP00000492197.1:p.Thr315=
ENST00000205557.11:c.4131G=	ENSP00000205557.7:p.Thr1377=
ENST00000456970.6:c.3756G=	ENSP00000405002.2:n.3756G=
ENST00000576204.5:n.994G=
ENST00000622290.4:c.*1340G=	ENSP00000483331.1:n.*1340G=
NM_001171.5:c.4131G=	NP_001162.4:p.Thr1377=
XM_011522479.1:c.4098G=	XP_011520781.1:p.Thr1366=
XM_011522480.1:c.3789G=	XP_011520782.1:p.Thr1263=
XM_011522481.1:c.3789G=	XP_011520783.1:p.Thr1263=
XR_933134.1:n.539-5076C=
NM_001351800.1:c.3789G=	NP_001338729.1:p.Thr1263=
NR_147784.1:n.3793G=
XM_011522479.2:c.4098G=	XP_011520781.1:p.Thr1366=
XM_011522481.3:c.3789G=	XP_011520783.1:p.Thr1263=
XM_017023212.1:c.3963G=	XP_016878701.1:p.Thr1321=
XM_024450261.1:c.4167G=	XP_024306029.1:p.Thr1389=
NM_001171.6:c.4131G= MANE Select	NP_001162.5:p.Thr1377=