Canonical Allele Identifier: CA2210136478

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163017C= , CM000678.2:g.16163017C=	GRCh38
NC_000016.9:g.16256874C= , CM000678.1:g.16256874C=	GRCh37
NC_000016.8:g.16164375C=	NCBI36
NG_007558.2:g.65455G=
NG_007558.3:g.65601G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3482G=	ENSP00000483331.2:p.Ser1161=
ENST00000205557.12:c.3482G= MANE Select	ENSP00000205557.7:p.Ser1161=
ENST00000640696.1:c.321-1453G=	ENSP00000492197.1:n.321-1453G=
ENST00000205557.11:c.3482G=	ENSP00000205557.7:p.Ser1161=
ENST00000456970.6:c.3132-1453G=	ENSP00000405002.2:n.3132-1453G=
ENST00000622290.4:c.*691G=	ENSP00000483331.1:n.*691G=
NM_001171.5:c.3482G=	NP_001162.4:p.Ser1161=
XM_011522479.1:c.3449G=	XP_011520781.1:p.Ser1150=
XM_011522480.1:c.3140G=	XP_011520782.1:p.Ser1047=
XM_011522481.1:c.3140G=	XP_011520783.1:p.Ser1047=
XR_932836.1:n.3717G=
XR_932837.1:n.3543-1453G=
XR_932838.1:n.3543-1453G=
XR_933133.1:n.407+174C=
XR_933134.1:n.754+174C=
NM_001351800.1:c.3140G=	NP_001338729.1:p.Ser1047=
NR_147784.1:n.3169-1453G=
XM_011522479.2:c.3449G=	XP_011520781.1:p.Ser1150=
XM_011522481.3:c.3140G=	XP_011520783.1:p.Ser1047=
XM_017023212.1:c.3314G=	XP_016878701.1:p.Ser1105=
XM_017023214.1:c.3307-1453G=	XP_016878703.1:n.3307-1453G=
XM_024450261.1:c.3518G=	XP_024306029.1:p.Ser1173=
XR_932836.2:n.3663G=
XR_932837.3:n.3488-1453G=
XR_932838.3:n.3488-1453G=
NM_001171.6:c.3482G= MANE Select	NP_001162.5:p.Ser1161=