Canonical Allele Identifier: CA2210143305

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169792G= , CM000678.2:g.16169792G=	GRCh38
NC_000016.9:g.16263649G= , CM000678.1:g.16263649G=	GRCh37
NC_000016.8:g.16171150G=	NCBI36
NG_007558.2:g.58680C=
NG_007558.3:g.58826C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2849C=	ENSP00000483331.2:p.Ala950=
ENST00000205557.12:c.2849C= MANE Select	ENSP00000205557.7:p.Ala950=
ENST00000205557.11:c.2849C=	ENSP00000205557.7:p.Ala950=
ENST00000456970.6:c.2674C=	ENSP00000405002.2:n.2674C=
ENST00000622290.4:c.*58C=	ENSP00000483331.1:n.*58C=
NM_001171.5:c.2849C=	NP_001162.4:p.Ala950=
XM_011522479.1:c.2816C=	XP_011520781.1:p.Ala939=
XM_011522480.1:c.2507C=	XP_011520782.1:p.Ala836=
XM_011522481.1:c.2507C=	XP_011520783.1:p.Ala836=
XR_932836.1:n.3084C=
XR_932837.1:n.3085C=
XR_932838.1:n.3085C=
NM_001351800.1:c.2507C=	NP_001338729.1:p.Ala836=
NR_147784.1:n.2711C=
XM_011522479.2:c.2816C=	XP_011520781.1:p.Ala939=
XM_011522481.3:c.2507C=	XP_011520783.1:p.Ala836=
XM_017023212.1:c.2681C=	XP_016878701.1:p.Ala894=
XM_017023214.1:c.2849C=	XP_016878703.1:p.Ala950=
XM_024450261.1:c.2885C=	XP_024306029.1:p.Ala962=
XR_932836.2:n.3030C=
XR_932837.3:n.3030C=
XR_932838.3:n.3030C=
NM_001171.6:c.2849C= MANE Select	NP_001162.5:p.Ala950=