Canonical Allele Identifier: CA2210131743

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159487T= , CM000678.2:g.16159487T=	GRCh38
NC_000016.9:g.16253344T= , CM000678.1:g.16253344T=	GRCh37
NC_000016.8:g.16160845T=	NCBI36
NG_007558.2:g.68985A=
NG_007558.3:g.69131A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3730A=	ENSP00000483331.2:p.Lys1244=
ENST00000205557.12:c.3730A= MANE Select	ENSP00000205557.7:p.Lys1244=
ENST00000640696.1:c.544A=	ENSP00000492197.1:p.Lys182=
ENST00000205557.11:c.3730A=	ENSP00000205557.7:p.Lys1244=
ENST00000456970.6:c.3355A=	ENSP00000405002.2:n.3355A=
ENST00000622290.4:c.*939A=	ENSP00000483331.1:n.*939A=
NM_001171.5:c.3730A=	NP_001162.4:p.Lys1244=
XM_011522479.1:c.3697A=	XP_011520781.1:p.Lys1233=
XM_011522480.1:c.3388A=	XP_011520782.1:p.Lys1130=
XM_011522481.1:c.3388A=	XP_011520783.1:p.Lys1130=
XR_932836.1:n.3965A=
XR_932837.1:n.3766A=
XR_932838.1:n.3766A=
XR_933134.1:n.539-294T=
NM_001351800.1:c.3388A=	NP_001338729.1:p.Lys1130=
NR_147784.1:n.3392A=
XM_011522479.2:c.3697A=	XP_011520781.1:p.Lys1233=
XM_011522481.3:c.3388A=	XP_011520783.1:p.Lys1130=
XM_017023212.1:c.3562A=	XP_016878701.1:p.Lys1188=
XM_024450261.1:c.3766A=	XP_024306029.1:p.Lys1256=
XR_932836.2:n.3911A=
XR_932837.3:n.3711A=
XR_932838.3:n.3711A=
NM_001171.6:c.3730A= MANE Select	NP_001162.5:p.Lys1244=