Canonical Allele Identifier: CA2210140985
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154973C= , CM000678.2:g.16154973C= GRCh38
NC_000016.9:g.16248830C= , CM000678.1:g.16248830C= GRCh37
NC_000016.8:g.16156331C= NCBI36
NG_007558.2:g.73499G=
NG_007558.3:g.73645G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.804G=
ENST00000622290.5:c.*113G= ENSP00000483331.2:n.*113G=
ENST00000205557.12:c.3941G= MANE Select ENSP00000205557.7:p.Arg1314=
ENST00000640696.1:c.755G= ENSP00000492197.1:p.Arg252=
ENST00000205557.11:c.3941G= ENSP00000205557.7:p.Arg1314=
ENST00000456970.6:c.3566G= ENSP00000405002.2:n.3566G=
ENST00000576204.5:n.804G=
ENST00000622290.4:c.*1150G= ENSP00000483331.1:n.*1150G=
NM_001171.5:c.3941G= NP_001162.4:p.Arg1314=
XM_011522479.1:c.3908G= XP_011520781.1:p.Arg1303=
XM_011522480.1:c.3599G= XP_011520782.1:p.Arg1200=
XM_011522481.1:c.3599G= XP_011520783.1:p.Arg1200=
XR_932836.1:n.4239G=
XR_932837.1:n.3977G=
XR_932838.1:n.4040G=
XR_933134.1:n.539-4808C=
NM_001351800.1:c.3599G= NP_001338729.1:p.Arg1200=
NR_147784.1:n.3603G=
XM_011522479.2:c.3908G= XP_011520781.1:p.Arg1303=
XM_011522481.3:c.3599G= XP_011520783.1:p.Arg1200=
XM_017023212.1:c.3773G= XP_016878701.1:p.Arg1258=
XM_024450261.1:c.3977G= XP_024306029.1:p.Arg1326=
XR_932836.2:n.4185G=
XR_932837.3:n.3922G=
XR_932838.3:n.3985G=
NM_001171.6:c.3941G= MANE Select NP_001162.5:p.Arg1314=