Canonical Allele Identifier: CA1881255883
Community Standard Title: NM_054012.4(ASS1):c.535T= (p.Trp179=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130470873T= , CM000671.2:g.130470873T= GRCh38
NC_000009.11:g.133346260T= , CM000671.1:g.133346260T= GRCh37
NC_000009.10:g.132336081T= NCBI36
NG_011542.1:g.31167T=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.535T= MANE Select NP_446464.1:p.Trp179=
ENST00000352480.10:c.535T= MANE Select ENSP00000253004.6:p.Trp179=
NM_000050.4:c.535T= NP_000041.2:p.Trp179=
NM_054012.3:c.535T= NP_446464.1:p.Trp179=
ENST00000352480.9:c.535T= ENSP00000253004.6:p.Trp179=
ENST00000372393.7:c.535T= ENSP00000361469.2:p.Trp179=
ENST00000372394.5:c.535T= ENSP00000361471.1:p.Trp179=
ENST00000422569.5:c.535T= ENSP00000394212.1:p.Trp179=
ENST00000443588.1:c.478T= ENSP00000397785.1:p.Trp160=
ENST00000467695.5:n.244T=
ENST00000493984.6:n.366T=
XM_005272200.2:c.535T= XP_005272257.1:p.Trp179=
XM_005272200.3:c.535T= XP_005272257.1:p.Trp179=
XM_011518705.1:c.649T= XP_011517007.1:p.Trp217=
XM_011518705.2:c.649T= XP_011517007.1:p.Trp217=
XM_017014729.1:c.631T= XP_016870218.1:p.Trp211=