Canonical Allele Identifier: CA2210141038
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155002C= , CM000678.2:g.16155002C= GRCh38
NC_000016.9:g.16248859C= , CM000678.1:g.16248859C= GRCh37
NC_000016.8:g.16156360C= NCBI36
NG_007558.2:g.73470G=
NG_007558.3:g.73616G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.775G=
ENST00000622290.5:c.*84G= ENSP00000483331.2:n.*84G=
ENST00000205557.12:c.3912G= MANE Select ENSP00000205557.7:p.Gly1304=
ENST00000640696.1:c.726G= ENSP00000492197.1:p.Gly242=
ENST00000205557.11:c.3912G= ENSP00000205557.7:p.Gly1304=
ENST00000456970.6:c.3537G= ENSP00000405002.2:n.3537G=
ENST00000576204.5:n.775G=
ENST00000622290.4:c.*1121G= ENSP00000483331.1:n.*1121G=
NM_001171.5:c.3912G= NP_001162.4:p.Gly1304=
XM_011522479.1:c.3879G= XP_011520781.1:p.Gly1293=
XM_011522480.1:c.3570G= XP_011520782.1:p.Gly1190=
XM_011522481.1:c.3570G= XP_011520783.1:p.Gly1190=
XR_932836.1:n.4210G=
XR_932837.1:n.3948G=
XR_932838.1:n.4011G=
XR_933134.1:n.539-4779C=
NM_001351800.1:c.3570G= NP_001338729.1:p.Gly1190=
NR_147784.1:n.3574G=
XM_011522479.2:c.3879G= XP_011520781.1:p.Gly1293=
XM_011522481.3:c.3570G= XP_011520783.1:p.Gly1190=
XM_017023212.1:c.3744G= XP_016878701.1:p.Gly1248=
XM_024450261.1:c.3948G= XP_024306029.1:p.Gly1316=
XR_932836.2:n.4156G=
XR_932837.3:n.3893G=
XR_932838.3:n.3956G=
NM_001171.6:c.3912G= MANE Select NP_001162.5:p.Gly1304=