Canonical Allele Identifier: CA5283537
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371132
dbSNP Id: rs762387914

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480425C>T , CM000671.2:g.130480425C>T GRCh38
NC_000009.11:g.133355812C>T , CM000671.1:g.133355812C>T GRCh37
NC_000009.10:g.132345633C>T NCBI36
NG_011542.1:g.40719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.814C>T MANE Select ENSP00000253004.6:p.Arg272Cys
ENST00000352480.9:c.814C>T ENSP00000253004.6:p.Arg272Cys
ENST00000372386.6:n.85C>T
ENST00000372393.7:c.814C>T ENSP00000361469.2:p.Arg272Cys
ENST00000372394.5:c.814C>T ENSP00000361471.1:p.Arg272Cys
ENST00000470849.4:n.539C>T
ENST00000492400.5:n.323C>T
ENST00000493984.6:n.591C>T
NM_000050.4:c.814C>T NP_000041.2:p.Arg272Cys
NM_054012.3:c.814C>T NP_446464.1:p.Arg272Cys
XM_005272200.2:c.814C>T XP_005272257.1:p.Arg272Cys
XM_011518705.1:c.928C>T XP_011517007.1:p.Arg310Cys
XM_005272200.3:c.814C>T XP_005272257.1:p.Arg272Cys
XM_011518705.2:c.928C>T XP_011517007.1:p.Arg310Cys
XM_017014729.1:c.910C>T XP_016870218.1:p.Arg304Cys
NM_054012.4:c.814C>T MANE Select NP_446464.1:p.Arg272Cys