Canonical Allele Identifier: CA2210135198
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150727C= , CM000678.2:g.16150727C= GRCh38
NC_000016.9:g.16244584C= , CM000678.1:g.16244584C= GRCh37
NC_000016.8:g.16152085C= NCBI36
NG_007558.2:g.77745G=
NG_007558.3:g.77891G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*426G= ENSP00000483331.2:n.*426G=
ENST00000205557.12:c.4254G= MANE Select ENSP00000205557.7:p.Arg1418=
ENST00000640696.1:c.1068G= ENSP00000492197.1:p.Arg356=
ENST00000205557.11:c.4254G= ENSP00000205557.7:p.Arg1418=
ENST00000456970.6:c.3879G= ENSP00000405002.2:n.3879G=
ENST00000576204.5:n.1117G=
ENST00000622290.4:c.*1463G= ENSP00000483331.1:n.*1463G=
NM_001171.5:c.4254G= NP_001162.4:p.Arg1418=
XM_011522479.1:c.4221G= XP_011520781.1:p.Arg1407=
XM_011522480.1:c.3912G= XP_011520782.1:p.Arg1304=
XM_011522481.1:c.3912G= XP_011520783.1:p.Arg1304=
XR_933134.1:n.538+6437C=
NM_001351800.1:c.3912G= NP_001338729.1:p.Arg1304=
NR_147784.1:n.3916G=
XM_011522479.2:c.4221G= XP_011520781.1:p.Arg1407=
XM_011522481.3:c.3912G= XP_011520783.1:p.Arg1304=
XM_017023212.1:c.4086G= XP_016878701.1:p.Arg1362=
XM_024450261.1:c.4290G= XP_024306029.1:p.Arg1430=
NM_001171.6:c.4254G= MANE Select NP_001162.5:p.Arg1418=