Canonical Allele Identifier: CA2210141080

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155024A= , CM000678.2:g.16155024A=	GRCh38
NC_000016.9:g.16248881A= , CM000678.1:g.16248881A=	GRCh37
NC_000016.8:g.16156382A=	NCBI36
NG_007558.2:g.73448T=
NG_007558.3:g.73594T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.753T=
ENST00000622290.5:c.*62T=	ENSP00000483331.2:n.*62T=
ENST00000205557.12:c.3890T= MANE Select	ENSP00000205557.7:p.Ile1297=
ENST00000640696.1:c.704T=	ENSP00000492197.1:p.Ile235=
ENST00000205557.11:c.3890T=	ENSP00000205557.7:p.Ile1297=
ENST00000456970.6:c.3515T=	ENSP00000405002.2:n.3515T=
ENST00000576204.5:n.753T=
ENST00000622290.4:c.*1099T=	ENSP00000483331.1:n.*1099T=
NM_001171.5:c.3890T=	NP_001162.4:p.Ile1297=
XM_011522479.1:c.3857T=	XP_011520781.1:p.Ile1286=
XM_011522480.1:c.3548T=	XP_011520782.1:p.Ile1183=
XM_011522481.1:c.3548T=	XP_011520783.1:p.Ile1183=
XR_932836.1:n.4188T=
XR_932837.1:n.3926T=
XR_932838.1:n.3989T=
XR_933134.1:n.539-4757A=
NM_001351800.1:c.3548T=	NP_001338729.1:p.Ile1183=
NR_147784.1:n.3552T=
XM_011522479.2:c.3857T=	XP_011520781.1:p.Ile1286=
XM_011522481.3:c.3548T=	XP_011520783.1:p.Ile1183=
XM_017023212.1:c.3722T=	XP_016878701.1:p.Ile1241=
XM_024450261.1:c.3926T=	XP_024306029.1:p.Ile1309=
XR_932836.2:n.4134T=
XR_932837.3:n.3871T=
XR_932838.3:n.3934T=
NM_001171.6:c.3890T= MANE Select	NP_001162.5:p.Ile1297=