Canonical Allele Identifier: CA253838
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6333
dbSNP Id: rs121908645

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480446C>T , CM000671.2:g.130480446C>T GRCh38
NC_000009.11:g.133355833C>T , CM000671.1:g.133355833C>T GRCh37
NC_000009.10:g.132345654C>T NCBI36
NG_011542.1:g.40740C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.835C>T MANE Select ENSP00000253004.6:p.Arg279Ter
ENST00000352480.9:c.835C>T ENSP00000253004.6:p.Arg279Ter
ENST00000372386.6:n.106C>T
ENST00000372393.7:c.835C>T ENSP00000361469.2:p.Arg279Ter
ENST00000372394.5:c.835C>T ENSP00000361471.1:p.Arg279Ter
ENST00000470849.4:n.560C>T
ENST00000492400.5:n.344C>T
ENST00000493984.6:n.612C>T
NM_000050.4:c.835C>T NP_000041.2:p.Arg279Ter
NM_054012.3:c.835C>T NP_446464.1:p.Arg279Ter
XM_005272200.2:c.835C>T XP_005272257.1:p.Arg279Ter
XM_011518705.1:c.949C>T XP_011517007.1:p.Arg317Ter
XM_005272200.3:c.835C>T XP_005272257.1:p.Arg279Ter
XM_011518705.2:c.949C>T XP_011517007.1:p.Arg317Ter
XM_017014729.1:c.931C>T XP_016870218.1:p.Arg311Ter
NM_054012.4:c.835C>T MANE Select NP_446464.1:p.Arg279Ter