Canonical Allele Identifier: CA375225170
Gene: ASS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130458491C>A , CM000671.2:g.130458491C>A GRCh38
NC_000009.11:g.133333878C>A , CM000671.1:g.133333878C>A GRCh37
NC_000009.10:g.132323699C>A NCBI36
NG_011542.1:g.18785C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.265C>A MANE Select ENSP00000253004.6:p.Leu89Met
ENST00000352480.9:c.265C>A ENSP00000253004.6:p.Leu89Met
ENST00000372393.7:c.265C>A ENSP00000361469.2:p.Leu89Met
ENST00000372394.5:c.265C>A ENSP00000361471.1:p.Leu89Met
ENST00000422569.5:c.265C>A ENSP00000394212.1:p.Leu89Met
ENST00000443588.1:c.265C>A ENSP00000397785.1:p.Leu89Met
NM_000050.4:c.265C>A NP_000041.2:p.Leu89Met
NM_054012.3:c.265C>A NP_446464.1:p.Leu89Met
XM_005272200.2:c.265C>A XP_005272257.1:p.Leu89Met
XM_011518705.1:c.379C>A XP_011517007.1:p.Leu127Met
XM_005272200.3:c.265C>A XP_005272257.1:p.Leu89Met
XM_011518705.2:c.379C>A XP_011517007.1:p.Leu127Met
XM_017014729.1:c.361C>A XP_016870218.1:p.Leu121Met
NM_054012.4:c.265C>A MANE Select NP_446464.1:p.Leu89Met