Canonical Allele Identifier: CA2210143269

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169731C= , CM000678.2:g.16169731C=	GRCh38
NC_000016.9:g.16263588C= , CM000678.1:g.16263588C=	GRCh37
NC_000016.8:g.16171089C=	NCBI36
NG_007558.2:g.58741G=
NG_007558.3:g.58887G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2910G=	ENSP00000483331.2:p.Leu970=
ENST00000205557.12:c.2910G= MANE Select	ENSP00000205557.7:p.Leu970=
ENST00000205557.11:c.2910G=	ENSP00000205557.7:p.Leu970=
ENST00000456970.6:c.2735G=	ENSP00000405002.2:n.2735G=
ENST00000622290.4:c.*119G=	ENSP00000483331.1:n.*119G=
NM_001171.5:c.2910G=	NP_001162.4:p.Leu970=
XM_011522479.1:c.2877G=	XP_011520781.1:p.Leu959=
XM_011522480.1:c.2568G=	XP_011520782.1:p.Leu856=
XM_011522481.1:c.2568G=	XP_011520783.1:p.Leu856=
XR_932836.1:n.3145G=
XR_932837.1:n.3146G=
XR_932838.1:n.3146G=
NM_001351800.1:c.2568G=	NP_001338729.1:p.Leu856=
NR_147784.1:n.2772G=
XM_011522479.2:c.2877G=	XP_011520781.1:p.Leu959=
XM_011522481.3:c.2568G=	XP_011520783.1:p.Leu856=
XM_017023212.1:c.2742G=	XP_016878701.1:p.Leu914=
XM_017023214.1:c.2910G=	XP_016878703.1:p.Leu970=
XM_024450261.1:c.2946G=	XP_024306029.1:p.Leu982=
XR_932836.2:n.3091G=
XR_932837.3:n.3091G=
XR_932838.3:n.3091G=
NM_001171.6:c.2910G= MANE Select	NP_001162.5:p.Leu970=