Canonical Allele Identifier: CA2210136459

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163013G= , CM000678.2:g.16163013G=	GRCh38
NC_000016.9:g.16256870G= , CM000678.1:g.16256870G=	GRCh37
NC_000016.8:g.16164371G=	NCBI36
NG_007558.2:g.65459C=
NG_007558.3:g.65605C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3486C=	ENSP00000483331.2:p.Phe1162=
ENST00000205557.12:c.3486C= MANE Select	ENSP00000205557.7:p.Phe1162=
ENST00000640696.1:c.321-1449C=	ENSP00000492197.1:n.321-1449C=
ENST00000205557.11:c.3486C=	ENSP00000205557.7:p.Phe1162=
ENST00000456970.6:c.3132-1449C=	ENSP00000405002.2:n.3132-1449C=
ENST00000622290.4:c.*695C=	ENSP00000483331.1:n.*695C=
NM_001171.5:c.3486C=	NP_001162.4:p.Phe1162=
XM_011522479.1:c.3453C=	XP_011520781.1:p.Phe1151=
XM_011522480.1:c.3144C=	XP_011520782.1:p.Phe1048=
XM_011522481.1:c.3144C=	XP_011520783.1:p.Phe1048=
XR_932836.1:n.3721C=
XR_932837.1:n.3543-1449C=
XR_932838.1:n.3543-1449C=
XR_933133.1:n.407+170G=
XR_933134.1:n.754+170G=
NM_001351800.1:c.3144C=	NP_001338729.1:p.Phe1048=
NR_147784.1:n.3169-1449C=
XM_011522479.2:c.3453C=	XP_011520781.1:p.Phe1151=
XM_011522481.3:c.3144C=	XP_011520783.1:p.Phe1048=
XM_017023212.1:c.3318C=	XP_016878701.1:p.Phe1106=
XM_017023214.1:c.3307-1449C=	XP_016878703.1:n.3307-1449C=
XM_024450261.1:c.3522C=	XP_024306029.1:p.Phe1174=
XR_932836.2:n.3667C=
XR_932837.3:n.3488-1449C=
XR_932838.3:n.3488-1449C=
NM_001171.6:c.3486C= MANE Select	NP_001162.5:p.Phe1162=