Canonical Allele Identifier: CA2210146594

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16175946G= , CM000678.2:g.16175946G=	GRCh38
NC_000016.9:g.16269803G= , CM000678.1:g.16269803G=	GRCh37
NC_000016.8:g.16177304G=	NCBI36
NG_007558.2:g.52526C=
NG_007558.3:g.52672C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.2631C= MANE Select	NP_001162.5:p.Thr877=
ENST00000205557.12:c.2631C= MANE Select	ENSP00000205557.7:p.Thr877=
NM_001171.5:c.2631C=	NP_001162.4:p.Thr877=
NM_001351800.1:c.2289C=	NP_001338729.1:p.Thr763=
NR_147784.1:n.2493C=
ENST00000205557.11:c.2631C=	ENSP00000205557.7:p.Thr877=
ENST00000456970.6:c.2456C=	ENSP00000405002.2:p.Pro819=
ENST00000576683.1:n.118C=
ENST00000622290.4:c.2456C=	ENSP00000483331.1:p.Pro819=
ENST00000622290.5:c.2631C=	ENSP00000483331.2:p.Thr877=
XM_011522479.1:c.2598C=	XP_011520781.1:p.Thr866=
XM_011522479.2:c.2598C=	XP_011520781.1:p.Thr866=
XM_011522480.1:c.2289C=	XP_011520782.1:p.Thr763=
XM_011522481.1:c.2289C=	XP_011520783.1:p.Thr763=
XM_011522481.3:c.2289C=	XP_011520783.1:p.Thr763=
XM_011522482.1:c.2638C=	XP_011520784.1:p.Leu880=
XM_011522482.3:c.2638C=	XP_011520784.1:p.Leu880=
XM_017023212.1:c.2463C=	XP_016878701.1:p.Thr821=
XM_017023214.1:c.2631C=	XP_016878703.1:p.Thr877=
XM_024450261.1:c.2667C=	XP_024306029.1:p.Thr889=
XR_932836.1:n.2866C=
XR_932836.2:n.2812C=
XR_932837.1:n.2867C=
XR_932837.3:n.2812C=
XR_932838.1:n.2867C=
XR_932838.3:n.2812C=