Canonical Allele Identifier: CA2210140644

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154780G= , CM000678.2:g.16154780G=	GRCh38
NC_000016.9:g.16248637G= , CM000678.1:g.16248637G=	GRCh37
NC_000016.8:g.16156138G=	NCBI36
NG_007558.2:g.73692C=
NG_007558.3:g.73838C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.919C=
ENST00000622290.5:c.*228C=	ENSP00000483331.2:n.*228C=
ENST00000205557.12:c.4056C= MANE Select	ENSP00000205557.7:p.Phe1352=
ENST00000640696.1:c.870C=	ENSP00000492197.1:p.Phe290=
ENST00000205557.11:c.4056C=	ENSP00000205557.7:p.Phe1352=
ENST00000456970.6:c.3681C=	ENSP00000405002.2:n.3681C=
ENST00000576204.5:n.919C=
ENST00000622290.4:c.*1265C=	ENSP00000483331.1:n.*1265C=
NM_001171.5:c.4056C=	NP_001162.4:p.Phe1352=
XM_011522479.1:c.4023C=	XP_011520781.1:p.Phe1341=
XM_011522480.1:c.3714C=	XP_011520782.1:p.Phe1238=
XM_011522481.1:c.3714C=	XP_011520783.1:p.Phe1238=
XR_933134.1:n.539-5001G=
NM_001351800.1:c.3714C=	NP_001338729.1:p.Phe1238=
NR_147784.1:n.3718C=
XM_011522479.2:c.4023C=	XP_011520781.1:p.Phe1341=
XM_011522481.3:c.3714C=	XP_011520783.1:p.Phe1238=
XM_017023212.1:c.3888C=	XP_016878701.1:p.Phe1296=
XM_024450261.1:c.4092C=	XP_024306029.1:p.Phe1364=
NM_001171.6:c.4056C= MANE Select	NP_001162.5:p.Phe1352=