Canonical Allele Identifier: CA2210147269

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177552G= , CM000678.2:g.16177552G=	GRCh38
NC_000016.9:g.16271409G= , CM000678.1:g.16271409G=	GRCh37
NC_000016.8:g.16178910G=	NCBI36
NG_007558.2:g.50920C=
NG_007558.3:g.51066C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.2490C= MANE Select	NP_001162.5:p.Ala830=
ENST00000205557.12:c.2490C= MANE Select	ENSP00000205557.7:p.Ala830=
NM_001171.5:c.2490C=	NP_001162.4:p.Ala830=
NM_001351800.1:c.2148C=	NP_001338729.1:p.Ala716=
NR_147784.1:n.2452+1246C=
ENST00000205557.11:c.2490C=	ENSP00000205557.7:p.Ala830=
ENST00000456970.6:c.2415+1246C=	ENSP00000405002.2:n.2415+1246C=
ENST00000622290.4:c.2415+1246C=	ENSP00000483331.1:n.2415+1246C=
ENST00000622290.5:c.2490C=	ENSP00000483331.2:p.Ala830=
XM_011522479.1:c.2457C=	XP_011520781.1:p.Ala819=
XM_011522479.2:c.2457C=	XP_011520781.1:p.Ala819=
XM_011522480.1:c.2148C=	XP_011520782.1:p.Ala716=
XM_011522481.1:c.2148C=	XP_011520783.1:p.Ala716=
XM_011522481.3:c.2148C=	XP_011520783.1:p.Ala716=
XM_011522482.1:c.2490C=	XP_011520784.1:p.Ala830=
XM_011522482.3:c.2490C=	XP_011520784.1:p.Ala830=
XM_017023212.1:c.2322C=	XP_016878701.1:p.Ala774=
XM_017023214.1:c.2490C=	XP_016878703.1:p.Ala830=
XM_024450261.1:c.2526C=	XP_024306029.1:p.Ala842=
XR_932836.1:n.2725C=
XR_932836.2:n.2671C=
XR_932837.1:n.2726C=
XR_932837.3:n.2671C=
XR_932838.1:n.2726C=
XR_932838.3:n.2671C=