Canonical Allele Identifier: CA1881253946
Community Standard Title: NM_054012.4(ASS1):c.470G= (p.Arg157=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130466774G= , CM000671.2:g.130466774G= GRCh38
NC_000009.11:g.133342161G= , CM000671.1:g.133342161G= GRCh37
NC_000009.10:g.132331982G= NCBI36
NG_011542.1:g.27068G=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.470G= MANE Select NP_446464.1:p.Arg157=
ENST00000352480.10:c.470G= MANE Select ENSP00000253004.6:p.Arg157=
NM_000050.4:c.470G= NP_000041.2:p.Arg157=
NM_054012.3:c.470G= NP_446464.1:p.Arg157=
ENST00000352480.9:c.470G= ENSP00000253004.6:p.Arg157=
ENST00000372393.7:c.470G= ENSP00000361469.2:p.Arg157=
ENST00000372394.5:c.470G= ENSP00000361471.1:p.Arg157=
ENST00000422569.5:c.470G= ENSP00000394212.1:p.Arg157=
ENST00000443588.1:c.413G= ENSP00000397785.1:p.Arg138=
ENST00000467695.5:n.179G=
ENST00000493984.6:n.301G=
XM_005272200.2:c.470G= XP_005272257.1:p.Arg157=
XM_005272200.3:c.470G= XP_005272257.1:p.Arg157=
XM_011518705.1:c.584G= XP_011517007.1:p.Arg195=
XM_011518705.2:c.584G= XP_011517007.1:p.Arg195=
XM_017014729.1:c.566G= XP_016870218.1:p.Arg189=