Canonical Allele Identifier: CA2210129270
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16157727C= , CM000678.2:g.16157727C= GRCh38
NC_000016.9:g.16251584C= , CM000678.1:g.16251584C= GRCh37
NC_000016.8:g.16159085C= NCBI36
NG_007558.2:g.70745G=
NG_007558.3:g.70891G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3818G= ENSP00000483331.2:p.Arg1273=
ENST00000205557.12:c.3818G= MANE Select ENSP00000205557.7:p.Arg1273=
ENST00000640696.1:c.632G= ENSP00000492197.1:p.Arg211=
ENST00000205557.11:c.3818G= ENSP00000205557.7:p.Arg1273=
ENST00000456970.6:c.3443G= ENSP00000405002.2:n.3443G=
ENST00000622290.4:c.*1027G= ENSP00000483331.1:n.*1027G=
NM_001171.5:c.3818G= NP_001162.4:p.Arg1273=
XM_011522479.1:c.3785G= XP_011520781.1:p.Arg1262=
XM_011522480.1:c.3476G= XP_011520782.1:p.Arg1159=
XM_011522481.1:c.3476G= XP_011520783.1:p.Arg1159=
XR_932836.1:n.4053G=
XR_932837.1:n.3854G=
XR_932838.1:n.3854G=
XR_933134.1:n.539-2054C=
NM_001351800.1:c.3476G= NP_001338729.1:p.Arg1159=
NR_147784.1:n.3480G=
XM_011522479.2:c.3785G= XP_011520781.1:p.Arg1262=
XM_011522481.3:c.3476G= XP_011520783.1:p.Arg1159=
XM_017023212.1:c.3650G= XP_016878701.1:p.Arg1217=
XM_024450261.1:c.3854G= XP_024306029.1:p.Arg1285=
XR_932836.2:n.3999G=
XR_932837.3:n.3799G=
XR_932838.3:n.3799G=
NM_001171.6:c.3818G= MANE Select NP_001162.5:p.Arg1273=