Canonical Allele Identifier: CA467388507
Gene: ASS1 HGNC NCBI

Linked Data

dbSNP Id: rs1588475879
COSMIC: COSM487123
MyVariant Identifiers: chr9:g.133333871C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130458484C>A , CM000671.2:g.130458484C>A GRCh38
NC_000009.11:g.133333871C>A , CM000671.1:g.133333871C>A GRCh37
NC_000009.10:g.132323692C>A NCBI36
NG_011542.1:g.18778C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.258C>A MANE Select ENSP00000253004.6:p.Arg86=
ENST00000352480.9:c.258C>A ENSP00000253004.6:p.Arg86=
ENST00000372393.7:c.258C>A ENSP00000361469.2:p.Arg86=
ENST00000372394.5:c.258C>A ENSP00000361471.1:p.Arg86=
ENST00000422569.5:c.258C>A ENSP00000394212.1:p.Arg86=
ENST00000443588.1:c.258C>A ENSP00000397785.1:p.Arg86=
NM_000050.4:c.258C>A NP_000041.2:p.Arg86=
NM_054012.3:c.258C>A NP_446464.1:p.Arg86=
XM_005272200.2:c.258C>A XP_005272257.1:p.Arg86=
XM_011518705.1:c.372C>A XP_011517007.1:p.Arg124=
XM_005272200.3:c.258C>A XP_005272257.1:p.Arg86=
XM_011518705.2:c.372C>A XP_011517007.1:p.Arg124=
XM_017014729.1:c.354C>A XP_016870218.1:p.Arg118=
NM_054012.4:c.258C>A MANE Select NP_446464.1:p.Arg86=