Canonical Allele Identifier: CA10588902
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265961
dbSNP Id: rs886039853

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489345C>T , CM000671.2:g.130489345C>T GRCh38
NC_000009.11:g.133364732C>T , CM000671.1:g.133364732C>T GRCh37
NC_000009.10:g.132354553C>T NCBI36
NG_011542.1:g.49639C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.851C>T MANE Select ENSP00000253004.6:p.Thr284Ile
ENST00000352480.9:c.851C>T ENSP00000253004.6:p.Thr284Ile
ENST00000372386.6:n.122C>T
ENST00000372393.7:c.851C>T ENSP00000361469.2:p.Thr284Ile
ENST00000372394.5:c.851C>T ENSP00000361471.1:p.Thr284Ile
ENST00000470849.4:n.576C>T
ENST00000492400.5:n.360C>T
ENST00000493984.6:n.628C>T
NM_000050.4:c.851C>T NP_000041.2:p.Thr284Ile
NM_054012.3:c.851C>T NP_446464.1:p.Thr284Ile
XM_005272200.2:c.851C>T XP_005272257.1:p.Thr284Ile
XM_011518705.1:c.965C>T XP_011517007.1:p.Thr322Ile
XM_005272200.3:c.851C>T XP_005272257.1:p.Thr284Ile
XM_011518705.2:c.965C>T XP_011517007.1:p.Thr322Ile
XM_017014729.1:c.947C>T XP_016870218.1:p.Thr316Ile
NM_054012.4:c.851C>T MANE Select NP_446464.1:p.Thr284Ile