Canonical Allele Identifier: CA2210141041

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155007C= , CM000678.2:g.16155007C=	GRCh38
NC_000016.9:g.16248864C= , CM000678.1:g.16248864C=	GRCh37
NC_000016.8:g.16156365C=	NCBI36
NG_007558.2:g.73465G=
NG_007558.3:g.73611G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.770G=
ENST00000622290.5:c.*79G=	ENSP00000483331.2:n.*79G=
ENST00000205557.12:c.3907G= MANE Select	ENSP00000205557.7:p.Ala1303=
ENST00000640696.1:c.721G=	ENSP00000492197.1:p.Ala241=
ENST00000205557.11:c.3907G=	ENSP00000205557.7:p.Ala1303=
ENST00000456970.6:c.3532G=	ENSP00000405002.2:n.3532G=
ENST00000576204.5:n.770G=
ENST00000622290.4:c.*1116G=	ENSP00000483331.1:n.*1116G=
NM_001171.5:c.3907G=	NP_001162.4:p.Ala1303=
XM_011522479.1:c.3874G=	XP_011520781.1:p.Ala1292=
XM_011522480.1:c.3565G=	XP_011520782.1:p.Ala1189=
XM_011522481.1:c.3565G=	XP_011520783.1:p.Ala1189=
XR_932836.1:n.4205G=
XR_932837.1:n.3943G=
XR_932838.1:n.4006G=
XR_933134.1:n.539-4774C=
NM_001351800.1:c.3565G=	NP_001338729.1:p.Ala1189=
NR_147784.1:n.3569G=
XM_011522479.2:c.3874G=	XP_011520781.1:p.Ala1292=
XM_011522481.3:c.3565G=	XP_011520783.1:p.Ala1189=
XM_017023212.1:c.3739G=	XP_016878701.1:p.Ala1247=
XM_024450261.1:c.3943G=	XP_024306029.1:p.Ala1315=
XR_932836.2:n.4151G=
XR_932837.3:n.3888G=
XR_932838.3:n.3951G=
NM_001171.6:c.3907G= MANE Select	NP_001162.5:p.Ala1303=