Canonical Allele Identifier: CA2210141092
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155030A= , CM000678.2:g.16155030A= GRCh38
NC_000016.9:g.16248887A= , CM000678.1:g.16248887A= GRCh37
NC_000016.8:g.16156388A= NCBI36
NG_007558.2:g.73442T=
NG_007558.3:g.73588T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.747T=
ENST00000622290.5:c.*56T= ENSP00000483331.2:n.*56T=
ENST00000205557.12:c.3884T= MANE Select ENSP00000205557.7:p.Val1295=
ENST00000640696.1:c.698T= ENSP00000492197.1:p.Val233=
ENST00000205557.11:c.3884T= ENSP00000205557.7:p.Val1295=
ENST00000456970.6:c.3509T= ENSP00000405002.2:n.3509T=
ENST00000576204.5:n.747T=
ENST00000622290.4:c.*1093T= ENSP00000483331.1:n.*1093T=
NM_001171.5:c.3884T= NP_001162.4:p.Val1295=
XM_011522479.1:c.3851T= XP_011520781.1:p.Val1284=
XM_011522480.1:c.3542T= XP_011520782.1:p.Val1181=
XM_011522481.1:c.3542T= XP_011520783.1:p.Val1181=
XR_932836.1:n.4182T=
XR_932837.1:n.3920T=
XR_932838.1:n.3983T=
XR_933134.1:n.539-4751A=
NM_001351800.1:c.3542T= NP_001338729.1:p.Val1181=
NR_147784.1:n.3546T=
XM_011522479.2:c.3851T= XP_011520781.1:p.Val1284=
XM_011522481.3:c.3542T= XP_011520783.1:p.Val1181=
XM_017023212.1:c.3716T= XP_016878701.1:p.Val1239=
XM_024450261.1:c.3920T= XP_024306029.1:p.Val1307=
XR_932836.2:n.4128T=
XR_932837.3:n.3865T=
XR_932838.3:n.3928T=
NM_001171.6:c.3884T= MANE Select NP_001162.5:p.Val1295=