Canonical Allele Identifier: CA2210129032

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16157668C= , CM000678.2:g.16157668C=	GRCh38
NC_000016.9:g.16251525C= , CM000678.1:g.16251525C=	GRCh37
NC_000016.8:g.16159026C=	NCBI36
NG_007558.2:g.70804G=
NG_007558.3:g.70950G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3877G= MANE Select	NP_001162.5:p.Glu1293=
ENST00000205557.12:c.3877G= MANE Select	ENSP00000205557.7:p.Glu1293=
NM_001171.5:c.3877G=	NP_001162.4:p.Glu1293=
NM_001351800.1:c.3535G=	NP_001338729.1:p.Glu1179=
NR_147784.1:n.3539G=
ENST00000205557.11:c.3877G=	ENSP00000205557.7:p.Glu1293=
ENST00000456970.6:c.3502G=	ENSP00000405002.2:n.3502G=
ENST00000622290.4:c.*1086G=	ENSP00000483331.1:n.*1086G=
ENST00000622290.5:c.3877G=	ENSP00000483331.2:p.Glu1293=
ENST00000640696.1:c.691G=	ENSP00000492197.1:p.Glu231=
XM_011522479.1:c.3844G=	XP_011520781.1:p.Glu1282=
XM_011522479.2:c.3844G=	XP_011520781.1:p.Glu1282=
XM_011522480.1:c.3535G=	XP_011520782.1:p.Glu1179=
XM_011522481.1:c.3535G=	XP_011520783.1:p.Glu1179=
XM_011522481.3:c.3535G=	XP_011520783.1:p.Glu1179=
XM_017023212.1:c.3709G=	XP_016878701.1:p.Glu1237=
XM_024450261.1:c.3913G=	XP_024306029.1:p.Glu1305=
XR_932836.1:n.4112G=
XR_932836.2:n.4058G=
XR_932837.1:n.3913G=
XR_932837.3:n.3858G=
XR_932838.1:n.3913G=
XR_932838.3:n.3858G=
XR_933134.1:n.539-2113C=