Canonical Allele Identifier: CA274963
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193968
dbSNP Id: rs370595480

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480416G>A , CM000671.2:g.130480416G>A GRCh38
NC_000009.11:g.133355803G>A , CM000671.1:g.133355803G>A GRCh37
NC_000009.10:g.132345624G>A NCBI36
NG_011542.1:g.40710G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.805G>A MANE Select ENSP00000253004.6:p.Val269Met
ENST00000352480.9:c.805G>A ENSP00000253004.6:p.Val269Met
ENST00000372386.6:n.76G>A
ENST00000372393.7:c.805G>A ENSP00000361469.2:p.Val269Met
ENST00000372394.5:c.805G>A ENSP00000361471.1:p.Val269Met
ENST00000470849.4:n.530G>A
ENST00000492400.5:n.314G>A
ENST00000493984.6:n.582G>A
NM_000050.4:c.805G>A NP_000041.2:p.Val269Met
NM_054012.3:c.805G>A NP_446464.1:p.Val269Met
XM_005272200.2:c.805G>A XP_005272257.1:p.Val269Met
XM_011518705.1:c.919G>A XP_011517007.1:p.Val307Met
XM_005272200.3:c.805G>A XP_005272257.1:p.Val269Met
XM_011518705.2:c.919G>A XP_011517007.1:p.Val307Met
XM_017014729.1:c.901G>A XP_016870218.1:p.Val301Met
NM_054012.4:c.805G>A MANE Select NP_446464.1:p.Val269Met