Canonical Allele Identifier: CA2210143311

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169805G= , CM000678.2:g.16169805G=	GRCh38
NC_000016.9:g.16263662G= , CM000678.1:g.16263662G=	GRCh37
NC_000016.8:g.16171163G=	NCBI36
NG_007558.2:g.58667C=
NG_007558.3:g.58813C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2836C=	ENSP00000483331.2:p.Leu946=
ENST00000205557.12:c.2836C= MANE Select	ENSP00000205557.7:p.Leu946=
ENST00000205557.11:c.2836C=	ENSP00000205557.7:p.Leu946=
ENST00000456970.6:c.2661C=	ENSP00000405002.2:n.2661C=
ENST00000622290.4:c.*45C=	ENSP00000483331.1:n.*45C=
NM_001171.5:c.2836C=	NP_001162.4:p.Leu946=
XM_011522479.1:c.2803C=	XP_011520781.1:p.Leu935=
XM_011522480.1:c.2494C=	XP_011520782.1:p.Leu832=
XM_011522481.1:c.2494C=	XP_011520783.1:p.Leu832=
XR_932836.1:n.3071C=
XR_932837.1:n.3072C=
XR_932838.1:n.3072C=
NM_001351800.1:c.2494C=	NP_001338729.1:p.Leu832=
NR_147784.1:n.2698C=
XM_011522479.2:c.2803C=	XP_011520781.1:p.Leu935=
XM_011522481.3:c.2494C=	XP_011520783.1:p.Leu832=
XM_017023212.1:c.2668C=	XP_016878701.1:p.Leu890=
XM_017023214.1:c.2836C=	XP_016878703.1:p.Leu946=
XM_024450261.1:c.2872C=	XP_024306029.1:p.Leu958=
XR_932836.2:n.3017C=
XR_932837.3:n.3017C=
XR_932838.3:n.3017C=
NM_001171.6:c.2836C= MANE Select	NP_001162.5:p.Leu946=