Canonical Allele Identifier: CA2210141066
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155014C= , CM000678.2:g.16155014C= GRCh38
NC_000016.9:g.16248871C= , CM000678.1:g.16248871C= GRCh37
NC_000016.8:g.16156372C= NCBI36
NG_007558.2:g.73458G=
NG_007558.3:g.73604G=

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.763G=
ENST00000622290.5:c.*72G= ENSP00000483331.2:n.*72G=
ENST00000205557.12:c.3900G= MANE Select ENSP00000205557.7:p.Arg1300=
ENST00000640696.1:c.714G= ENSP00000492197.1:p.Arg238=
ENST00000205557.11:c.3900G= ENSP00000205557.7:p.Arg1300=
ENST00000456970.6:c.3525G= ENSP00000405002.2:n.3525G=
ENST00000576204.5:n.763G=
ENST00000622290.4:c.*1109G= ENSP00000483331.1:n.*1109G=
NM_001171.5:c.3900G= NP_001162.4:p.Arg1300=
XM_011522479.1:c.3867G= XP_011520781.1:p.Arg1289=
XM_011522480.1:c.3558G= XP_011520782.1:p.Arg1186=
XM_011522481.1:c.3558G= XP_011520783.1:p.Arg1186=
XR_932836.1:n.4198G=
XR_932837.1:n.3936G=
XR_932838.1:n.3999G=
XR_933134.1:n.539-4767C=
NM_001351800.1:c.3558G= NP_001338729.1:p.Arg1186=
NR_147784.1:n.3562G=
XM_011522479.2:c.3867G= XP_011520781.1:p.Arg1289=
XM_011522481.3:c.3558G= XP_011520783.1:p.Arg1186=
XM_017023212.1:c.3732G= XP_016878701.1:p.Arg1244=
XM_024450261.1:c.3936G= XP_024306029.1:p.Arg1312=
XR_932836.2:n.4144G=
XR_932837.3:n.3881G=
XR_932838.3:n.3944G=
NM_001171.6:c.3900G= MANE Select NP_001162.5:p.Arg1300=