Canonical Allele Identifier: CA2210134758
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150583A= , CM000678.2:g.16150583A= GRCh38
NC_000016.9:g.16244440A= , CM000678.1:g.16244440A= GRCh37
NC_000016.8:g.16151941A= NCBI36
NG_007558.2:g.77889T=
NG_007558.3:g.78035T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*570T= ENSP00000483331.2:n.*570T=
ENST00000205557.12:c.4398T= MANE Select ENSP00000205557.7:p.Cys1466=
ENST00000640696.1:c.1212T= ENSP00000492197.1:p.Cys404=
ENST00000205557.11:c.4398T= ENSP00000205557.7:p.Cys1466=
ENST00000456970.6:c.4023T= ENSP00000405002.2:n.4023T=
ENST00000576204.5:n.1261T=
ENST00000622290.4:c.*1607T= ENSP00000483331.1:n.*1607T=
NM_001171.5:c.4398T= NP_001162.4:p.Cys1466=
XM_011522479.1:c.4365T= XP_011520781.1:p.Cys1455=
XM_011522480.1:c.4056T= XP_011520782.1:p.Cys1352=
XM_011522481.1:c.4056T= XP_011520783.1:p.Cys1352=
XR_933134.1:n.538+6293A=
NM_001351800.1:c.4056T= NP_001338729.1:p.Cys1352=
NR_147784.1:n.4060T=
XM_011522479.2:c.4365T= XP_011520781.1:p.Cys1455=
XM_011522481.3:c.4056T= XP_011520783.1:p.Cys1352=
XM_017023212.1:c.4230T= XP_016878701.1:p.Cys1410=
XM_024450261.1:c.4434T= XP_024306029.1:p.Cys1478=
NM_001171.6:c.4398T= MANE Select NP_001162.5:p.Cys1466=