Canonical Allele Identifier: CA2210140179

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165841G= , CM000678.2:g.16165841G=	GRCh38
NC_000016.9:g.16259698G= , CM000678.1:g.16259698G=	GRCh37
NC_000016.8:g.16167199G=	NCBI36
NG_007558.2:g.62631C=
NG_007558.3:g.62777C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3088C= MANE Select	NP_001162.5:p.Arg1030=
ENST00000205557.12:c.3088C= MANE Select	ENSP00000205557.7:p.Arg1030=
NM_001171.5:c.3088C=	NP_001162.4:p.Arg1030=
NM_001351800.1:c.2746C=	NP_001338729.1:p.Arg916=
NR_147784.1:n.2950C=
ENST00000205557.11:c.3088C=	ENSP00000205557.7:p.Arg1030=
ENST00000456970.6:c.2913C=	ENSP00000405002.2:n.2913C=
ENST00000622290.4:c.*297C=	ENSP00000483331.1:n.*297C=
ENST00000622290.5:c.3088C=	ENSP00000483331.2:p.Arg1030=
ENST00000640696.1:c.103C=	ENSP00000492197.1:p.Arg35=
XM_011522479.1:c.3055C=	XP_011520781.1:p.Arg1019=
XM_011522479.2:c.3055C=	XP_011520781.1:p.Arg1019=
XM_011522480.1:c.2746C=	XP_011520782.1:p.Arg916=
XM_011522481.1:c.2746C=	XP_011520783.1:p.Arg916=
XM_011522481.3:c.2746C=	XP_011520783.1:p.Arg916=
XM_017023212.1:c.2920C=	XP_016878701.1:p.Arg974=
XM_017023214.1:c.3088C=	XP_016878703.1:p.Arg1030=
XM_024450261.1:c.3124C=	XP_024306029.1:p.Arg1042=
XR_932836.1:n.3323C=
XR_932836.2:n.3269C=
XR_932837.1:n.3324C=
XR_932837.3:n.3269C=
XR_932838.1:n.3324C=
XR_932838.3:n.3269C=