Canonical Allele Identifier: CA2210143338

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169846G= , CM000678.2:g.16169846G=	GRCh38
NC_000016.9:g.16263703G= , CM000678.1:g.16263703G=	GRCh37
NC_000016.8:g.16171204G=	NCBI36
NG_007558.2:g.58626C=
NG_007558.3:g.58772C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2795C=	ENSP00000483331.2:p.Ala932=
ENST00000205557.12:c.2795C= MANE Select	ENSP00000205557.7:p.Ala932=
ENST00000205557.11:c.2795C=	ENSP00000205557.7:p.Ala932=
ENST00000456970.6:c.2620C=	ENSP00000405002.2:n.2620C=
ENST00000622290.4:c.*4C=	ENSP00000483331.1:n.*4C=
NM_001171.5:c.2795C=	NP_001162.4:p.Ala932=
XM_011522479.1:c.2762C=	XP_011520781.1:p.Ala921=
XM_011522480.1:c.2453C=	XP_011520782.1:p.Ala818=
XM_011522481.1:c.2453C=	XP_011520783.1:p.Ala818=
XR_932836.1:n.3030C=
XR_932837.1:n.3031C=
XR_932838.1:n.3031C=
NM_001351800.1:c.2453C=	NP_001338729.1:p.Ala818=
NR_147784.1:n.2657C=
XM_011522479.2:c.2762C=	XP_011520781.1:p.Ala921=
XM_011522481.3:c.2453C=	XP_011520783.1:p.Ala818=
XM_017023212.1:c.2627C=	XP_016878701.1:p.Ala876=
XM_017023214.1:c.2795C=	XP_016878703.1:p.Ala932=
XM_024450261.1:c.2831C=	XP_024306029.1:p.Ala944=
XR_932836.2:n.2976C=
XR_932837.3:n.2976C=
XR_932838.3:n.2976C=
NM_001171.6:c.2795C= MANE Select	NP_001162.5:p.Ala932=