Canonical Allele Identifier: CA2210134917

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150638A= , CM000678.2:g.16150638A=	GRCh38
NC_000016.9:g.16244495A= , CM000678.1:g.16244495A=	GRCh37
NC_000016.8:g.16151996A=	NCBI36
NG_007558.2:g.77834T=
NG_007558.3:g.77980T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*515T=	ENSP00000483331.2:n.*515T=
ENST00000205557.12:c.4343T= MANE Select	ENSP00000205557.7:p.Phe1448=
ENST00000640696.1:c.1157T=	ENSP00000492197.1:p.Phe386=
ENST00000205557.11:c.4343T=	ENSP00000205557.7:p.Phe1448=
ENST00000456970.6:c.3968T=	ENSP00000405002.2:n.3968T=
ENST00000576204.5:n.1206T=
ENST00000622290.4:c.*1552T=	ENSP00000483331.1:n.*1552T=
NM_001171.5:c.4343T=	NP_001162.4:p.Phe1448=
XM_011522479.1:c.4310T=	XP_011520781.1:p.Phe1437=
XM_011522480.1:c.4001T=	XP_011520782.1:p.Phe1334=
XM_011522481.1:c.4001T=	XP_011520783.1:p.Phe1334=
XR_933134.1:n.538+6348A=
NM_001351800.1:c.4001T=	NP_001338729.1:p.Phe1334=
NR_147784.1:n.4005T=
XM_011522479.2:c.4310T=	XP_011520781.1:p.Phe1437=
XM_011522481.3:c.4001T=	XP_011520783.1:p.Phe1334=
XM_017023212.1:c.4175T=	XP_016878701.1:p.Phe1392=
XM_024450261.1:c.4379T=	XP_024306029.1:p.Phe1460=
NM_001171.6:c.4343T= MANE Select	NP_001162.5:p.Phe1448=