Canonical Allele Identifier: CA2806037164
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150130G>A , CM000678.2:g.16150130G>A GRCh38
NC_000016.9:g.16243987G>A , CM000678.1:g.16243987G>A GRCh37
NC_000016.8:g.16151488G>A NCBI36
NG_007558.2:g.78342C>T
NG_007558.3:g.78488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*687C>T ENSP00000483331.2:n.*687C>T
ENST00000205557.12:c.*3C>T MANE Select ENSP00000205557.7:n.*3C>T
ENST00000640696.1:c.1329C>T ENSP00000492197.1:n.1329C>T
ENST00000205557.11:c.*3C>T ENSP00000205557.7:n.*3C>T
ENST00000576204.5:n.1378C>T
ENST00000622290.4:c.*1724C>T ENSP00000483331.1:n.*1724C>T
NM_001171.5:c.*3C>T NP_001162.4:n.*3C>T
XM_011522479.1:c.*3C>T XP_011520781.1:n.*3C>T
XM_011522480.1:c.*3C>T XP_011520782.1:n.*3C>T
XM_011522481.1:c.*3C>T XP_011520783.1:n.*3C>T
XR_933134.1:n.538+5840G>A
NM_001351800.1:c.*3C>T NP_001338729.1:n.*3C>T
NR_147784.1:n.4177C>T
XM_011522479.2:c.*3C>T XP_011520781.1:n.*3C>T
XM_011522481.3:c.*3C>T XP_011520783.1:n.*3C>T
XM_017023212.1:c.*3C>T XP_016878701.1:n.*3C>T
XM_024450261.1:c.*3C>T XP_024306029.1:n.*3C>T
NM_001171.6:c.*3C>T MANE Select NP_001162.5:n.*3C>T