Canonical Allele Identifier: CA394884788
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154773A>T , CM000678.2:g.16154773A>T GRCh38
NC_000016.9:g.16248630A>T , CM000678.1:g.16248630A>T GRCh37
NC_000016.8:g.16156131A>T NCBI36
NG_007558.2:g.73699T>A
NG_007558.3:g.73845T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.926T>A
ENST00000622290.5:c.*235T>A ENSP00000483331.2:n.*235T>A
ENST00000205557.12:c.4063T>A MANE Select ENSP00000205557.7:p.Ser1355Thr
ENST00000640696.1:c.877T>A ENSP00000492197.1:p.Ser293Thr
ENST00000205557.11:c.4063T>A ENSP00000205557.7:p.Ser1355Thr
ENST00000456970.6:c.3688T>A ENSP00000405002.2:n.3688T>A
ENST00000576204.5:n.926T>A
ENST00000622290.4:c.*1272T>A ENSP00000483331.1:n.*1272T>A
NM_001171.5:c.4063T>A NP_001162.4:p.Ser1355Thr
XM_011522479.1:c.4030T>A XP_011520781.1:p.Ser1344Thr
XM_011522480.1:c.3721T>A XP_011520782.1:p.Ser1241Thr
XM_011522481.1:c.3721T>A XP_011520783.1:p.Ser1241Thr
XR_933134.1:n.539-5008A>T
NM_001351800.1:c.3721T>A NP_001338729.1:p.Ser1241Thr
NR_147784.1:n.3725T>A
XM_011522479.2:c.4030T>A XP_011520781.1:p.Ser1344Thr
XM_011522481.3:c.3721T>A XP_011520783.1:p.Ser1241Thr
XM_017023212.1:c.3895T>A XP_016878701.1:p.Ser1299Thr
XM_024450261.1:c.4099T>A XP_024306029.1:p.Ser1367Thr
NM_001171.6:c.4063T>A MANE Select NP_001162.5:p.Ser1355Thr