Canonical Allele Identifier: CA2210131920

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159533G= , CM000678.2:g.16159533G=	GRCh38
NC_000016.9:g.16253390G= , CM000678.1:g.16253390G=	GRCh37
NC_000016.8:g.16160891G=	NCBI36
NG_007558.2:g.68939C=
NG_007558.3:g.69085C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3684C=	ENSP00000483331.2:p.Asn1228=
ENST00000205557.12:c.3684C= MANE Select	ENSP00000205557.7:p.Asn1228=
ENST00000640696.1:c.498C=	ENSP00000492197.1:p.Asn166=
ENST00000205557.11:c.3684C=	ENSP00000205557.7:p.Asn1228=
ENST00000456970.6:c.3309C=	ENSP00000405002.2:n.3309C=
ENST00000622290.4:c.*893C=	ENSP00000483331.1:n.*893C=
NM_001171.5:c.3684C=	NP_001162.4:p.Asn1228=
XM_011522479.1:c.3651C=	XP_011520781.1:p.Asn1217=
XM_011522480.1:c.3342C=	XP_011520782.1:p.Asn1114=
XM_011522481.1:c.3342C=	XP_011520783.1:p.Asn1114=
XR_932836.1:n.3919C=
XR_932837.1:n.3720C=
XR_932838.1:n.3720C=
XR_933134.1:n.539-248G=
NM_001351800.1:c.3342C=	NP_001338729.1:p.Asn1114=
NR_147784.1:n.3346C=
XM_011522479.2:c.3651C=	XP_011520781.1:p.Asn1217=
XM_011522481.3:c.3342C=	XP_011520783.1:p.Asn1114=
XM_017023212.1:c.3516C=	XP_016878701.1:p.Asn1172=
XM_024450261.1:c.3720C=	XP_024306029.1:p.Asn1240=
XR_932836.2:n.3865C=
XR_932837.3:n.3665C=
XR_932838.3:n.3665C=
NM_001171.6:c.3684C= MANE Select	NP_001162.5:p.Asn1228=