Canonical Allele Identifier: CA2210134007
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150173C= , CM000678.2:g.16150173C= GRCh38
NC_000016.9:g.16244030C= , CM000678.1:g.16244030C= GRCh37
NC_000016.8:g.16151531C= NCBI36
NG_007558.2:g.78299G=
NG_007558.3:g.78445G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*644G= ENSP00000483331.2:n.*644G=
ENST00000205557.12:c.4472G= MANE Select ENSP00000205557.7:p.Gly1491=
ENST00000640696.1:c.1286G= ENSP00000492197.1:p.Gly429=
ENST00000205557.11:c.4472G= ENSP00000205557.7:p.Gly1491=
ENST00000456970.6:c.4097G= ENSP00000405002.2:n.4097G=
ENST00000576204.5:n.1335G=
ENST00000622290.4:c.*1681G= ENSP00000483331.1:n.*1681G=
NM_001171.5:c.4472G= NP_001162.4:p.Gly1491=
XM_011522479.1:c.4439G= XP_011520781.1:p.Gly1480=
XM_011522480.1:c.4130G= XP_011520782.1:p.Gly1377=
XM_011522481.1:c.4130G= XP_011520783.1:p.Gly1377=
XR_933134.1:n.538+5883C=
NM_001351800.1:c.4130G= NP_001338729.1:p.Gly1377=
NR_147784.1:n.4134G=
XM_011522479.2:c.4439G= XP_011520781.1:p.Gly1480=
XM_011522481.3:c.4130G= XP_011520783.1:p.Gly1377=
XM_017023212.1:c.4304G= XP_016878701.1:p.Gly1435=
XM_024450261.1:c.4508G= XP_024306029.1:p.Gly1503=
NM_001171.6:c.4472G= MANE Select NP_001162.5:p.Gly1491=