Canonical Allele Identifier: CA1881256244
Community Standard Title: NM_054012.4(ASS1):c.571G= (p.Glu191=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130471489G= , CM000671.2:g.130471489G= GRCh38
NC_000009.11:g.133346876G= , CM000671.1:g.133346876G= GRCh37
NC_000009.10:g.132336697G= NCBI36
NG_011542.1:g.31783G=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.571G= MANE Select NP_446464.1:p.Glu191=
ENST00000352480.10:c.571G= MANE Select ENSP00000253004.6:p.Glu191=
NM_000050.4:c.571G= NP_000041.2:p.Glu191=
NM_054012.3:c.571G= NP_446464.1:p.Glu191=
ENST00000352480.9:c.571G= ENSP00000253004.6:p.Glu191=
ENST00000372393.7:c.571G= ENSP00000361469.2:p.Glu191=
ENST00000372394.5:c.571G= ENSP00000361471.1:p.Glu191=
ENST00000422569.5:c.571G= ENSP00000394212.1:p.Glu191=
ENST00000443588.1:c.514G= ENSP00000397785.1:p.Glu172=
ENST00000467695.5:n.280G=
ENST00000493984.6:n.402G=
XM_005272200.2:c.571G= XP_005272257.1:p.Glu191=
XM_005272200.3:c.571G= XP_005272257.1:p.Glu191=
XM_011518705.1:c.685G= XP_011517007.1:p.Glu229=
XM_011518705.2:c.685G= XP_011517007.1:p.Glu229=
XM_017014729.1:c.667G= XP_016870218.1:p.Glu223=