Canonical Allele Identifier: CA2210141011

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154984A= , CM000678.2:g.16154984A=	GRCh38
NC_000016.9:g.16248841A= , CM000678.1:g.16248841A=	GRCh37
NC_000016.8:g.16156342A=	NCBI36
NG_007558.2:g.73488T=
NG_007558.3:g.73634T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.793T=
ENST00000622290.5:c.*102T=	ENSP00000483331.2:n.*102T=
ENST00000205557.12:c.3930T= MANE Select	ENSP00000205557.7:p.Ser1310=
ENST00000640696.1:c.744T=	ENSP00000492197.1:p.Ser248=
ENST00000205557.11:c.3930T=	ENSP00000205557.7:p.Ser1310=
ENST00000456970.6:c.3555T=	ENSP00000405002.2:n.3555T=
ENST00000576204.5:n.793T=
ENST00000622290.4:c.*1139T=	ENSP00000483331.1:n.*1139T=
NM_001171.5:c.3930T=	NP_001162.4:p.Ser1310=
XM_011522479.1:c.3897T=	XP_011520781.1:p.Ser1299=
XM_011522480.1:c.3588T=	XP_011520782.1:p.Ser1196=
XM_011522481.1:c.3588T=	XP_011520783.1:p.Ser1196=
XR_932836.1:n.4228T=
XR_932837.1:n.3966T=
XR_932838.1:n.4029T=
XR_933134.1:n.539-4797A=
NM_001351800.1:c.3588T=	NP_001338729.1:p.Ser1196=
NR_147784.1:n.3592T=
XM_011522479.2:c.3897T=	XP_011520781.1:p.Ser1299=
XM_011522481.3:c.3588T=	XP_011520783.1:p.Ser1196=
XM_017023212.1:c.3762T=	XP_016878701.1:p.Ser1254=
XM_024450261.1:c.3966T=	XP_024306029.1:p.Ser1322=
XR_932836.2:n.4174T=
XR_932837.3:n.3911T=
XR_932838.3:n.3974T=
NM_001171.6:c.3930T= MANE Select	NP_001162.5:p.Ser1310=