Canonical Allele Identifier: CA2210129242

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16157722G= , CM000678.2:g.16157722G=	GRCh38
NC_000016.9:g.16251579G= , CM000678.1:g.16251579G=	GRCh37
NC_000016.8:g.16159080G=	NCBI36
NG_007558.2:g.70750C=
NG_007558.3:g.70896C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3823C= MANE Select	NP_001162.5:p.Arg1275=
ENST00000205557.12:c.3823C= MANE Select	ENSP00000205557.7:p.Arg1275=
NM_001171.5:c.3823C=	NP_001162.4:p.Arg1275=
NM_001351800.1:c.3481C=	NP_001338729.1:p.Arg1161=
NR_147784.1:n.3485C=
ENST00000205557.11:c.3823C=	ENSP00000205557.7:p.Arg1275=
ENST00000456970.6:c.3448C=	ENSP00000405002.2:n.3448C=
ENST00000622290.4:c.*1032C=	ENSP00000483331.1:n.*1032C=
ENST00000622290.5:c.3823C=	ENSP00000483331.2:p.Arg1275=
ENST00000640696.1:c.637C=	ENSP00000492197.1:p.Arg213=
XM_011522479.1:c.3790C=	XP_011520781.1:p.Arg1264=
XM_011522479.2:c.3790C=	XP_011520781.1:p.Arg1264=
XM_011522480.1:c.3481C=	XP_011520782.1:p.Arg1161=
XM_011522481.1:c.3481C=	XP_011520783.1:p.Arg1161=
XM_011522481.3:c.3481C=	XP_011520783.1:p.Arg1161=
XM_017023212.1:c.3655C=	XP_016878701.1:p.Arg1219=
XM_024450261.1:c.3859C=	XP_024306029.1:p.Arg1287=
XR_932836.1:n.4058C=
XR_932836.2:n.4004C=
XR_932837.1:n.3859C=
XR_932837.3:n.3804C=
XR_932838.1:n.3859C=
XR_932838.3:n.3804C=
XR_933134.1:n.539-2059G=