Canonical Allele Identifier: CA2210135271
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150740C= , CM000678.2:g.16150740C= GRCh38
NC_000016.9:g.16244597C= , CM000678.1:g.16244597C= GRCh37
NC_000016.8:g.16152098C= NCBI36
NG_007558.2:g.77732G=
NG_007558.3:g.77878G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*413G= ENSP00000483331.2:n.*413G=
ENST00000205557.12:c.4241G= MANE Select ENSP00000205557.7:p.Arg1414=
ENST00000640696.1:c.1055G= ENSP00000492197.1:p.Arg352=
ENST00000205557.11:c.4241G= ENSP00000205557.7:p.Arg1414=
ENST00000456970.6:c.3866G= ENSP00000405002.2:n.3866G=
ENST00000576204.5:n.1104G=
ENST00000622290.4:c.*1450G= ENSP00000483331.1:n.*1450G=
NM_001171.5:c.4241G= NP_001162.4:p.Arg1414=
XM_011522479.1:c.4208G= XP_011520781.1:p.Arg1403=
XM_011522480.1:c.3899G= XP_011520782.1:p.Arg1300=
XM_011522481.1:c.3899G= XP_011520783.1:p.Arg1300=
XR_933134.1:n.538+6450C=
NM_001351800.1:c.3899G= NP_001338729.1:p.Arg1300=
NR_147784.1:n.3903G=
XM_011522479.2:c.4208G= XP_011520781.1:p.Arg1403=
XM_011522481.3:c.3899G= XP_011520783.1:p.Arg1300=
XM_017023212.1:c.4073G= XP_016878701.1:p.Arg1358=
XM_024450261.1:c.4277G= XP_024306029.1:p.Arg1426=
NM_001171.6:c.4241G= MANE Select NP_001162.5:p.Arg1414=