Canonical Allele Identifier: CA2210140918
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154918G= , CM000678.2:g.16154918G= GRCh38
NC_000016.9:g.16248775G= , CM000678.1:g.16248775G= GRCh37
NC_000016.8:g.16156276G= NCBI36
NG_007558.2:g.73554C=
NG_007558.3:g.73700C=

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.859C=
ENST00000622290.5:c.*168C= ENSP00000483331.2:n.*168C=
ENST00000205557.12:c.3996C= MANE Select ENSP00000205557.7:p.His1332=
ENST00000640696.1:c.810C= ENSP00000492197.1:p.His270=
ENST00000205557.11:c.3996C= ENSP00000205557.7:p.His1332=
ENST00000456970.6:c.3621C= ENSP00000405002.2:n.3621C=
ENST00000576204.5:n.859C=
ENST00000622290.4:c.*1205C= ENSP00000483331.1:n.*1205C=
NM_001171.5:c.3996C= NP_001162.4:p.His1332=
XM_011522479.1:c.3963C= XP_011520781.1:p.His1321=
XM_011522480.1:c.3654C= XP_011520782.1:p.His1218=
XM_011522481.1:c.3654C= XP_011520783.1:p.His1218=
XR_933134.1:n.539-4863G=
NM_001351800.1:c.3654C= NP_001338729.1:p.His1218=
NR_147784.1:n.3658C=
XM_011522479.2:c.3963C= XP_011520781.1:p.His1321=
XM_011522481.3:c.3654C= XP_011520783.1:p.His1218=
XM_017023212.1:c.3828C= XP_016878701.1:p.His1276=
XM_024450261.1:c.4032C= XP_024306029.1:p.His1344=
NM_001171.6:c.3996C= MANE Select NP_001162.5:p.His1332=