Canonical Allele Identifier: CA1881281192
Community Standard Title: NM_054012.4(ASS1):c.1168G= (p.Gly390=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130499545G= , CM000671.2:g.130499545G= GRCh38
NC_000009.11:g.133374932G= , CM000671.1:g.133374932G= GRCh37
NC_000009.10:g.132364753G= NCBI36
NG_011542.1:g.59839G=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.1168G= MANE Select NP_446464.1:p.Gly390=
ENST00000352480.10:c.1168G= MANE Select ENSP00000253004.6:p.Gly390=
NM_000050.4:c.1168G= NP_000041.2:p.Gly390=
NM_054012.3:c.1168G= NP_446464.1:p.Gly390=
ENST00000352480.9:c.1168G= ENSP00000253004.6:p.Gly390=
ENST00000372386.6:n.439G=
ENST00000372393.7:c.1168G= ENSP00000361469.2:p.Gly390=
ENST00000372394.5:c.1168G= ENSP00000361471.1:p.Gly390=
XM_005272200.2:c.1168G= XP_005272257.1:p.Gly390=
XM_005272200.3:c.1168G= XP_005272257.1:p.Gly390=
XM_011518705.1:c.1282G= XP_011517007.1:p.Gly428=
XM_011518705.2:c.1282G= XP_011517007.1:p.Gly428=
XM_017014729.1:c.1264G= XP_016870218.1:p.Gly422=
XR_930393.1:n.1059+402C=
XR_930393.2:n.1101+402C=