Canonical Allele Identifier: CA1881271970
Community Standard Title: NM_054012.4(ASS1):c.814C= (p.Arg272=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480425C= , CM000671.2:g.130480425C= GRCh38
NC_000009.11:g.133355812C= , CM000671.1:g.133355812C= GRCh37
NC_000009.10:g.132345633C= NCBI36
NG_011542.1:g.40719C=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.814C= MANE Select NP_446464.1:p.Arg272=
ENST00000352480.10:c.814C= MANE Select ENSP00000253004.6:p.Arg272=
NM_000050.4:c.814C= NP_000041.2:p.Arg272=
NM_054012.3:c.814C= NP_446464.1:p.Arg272=
ENST00000352480.9:c.814C= ENSP00000253004.6:p.Arg272=
ENST00000372386.6:n.85C=
ENST00000372393.7:c.814C= ENSP00000361469.2:p.Arg272=
ENST00000372394.5:c.814C= ENSP00000361471.1:p.Arg272=
ENST00000470849.4:n.539C=
ENST00000492400.5:n.323C=
ENST00000493984.6:n.591C=
XM_005272200.2:c.814C= XP_005272257.1:p.Arg272=
XM_005272200.3:c.814C= XP_005272257.1:p.Arg272=
XM_011518705.1:c.928C= XP_011517007.1:p.Arg310=
XM_011518705.2:c.928C= XP_011517007.1:p.Arg310=
XM_017014729.1:c.910C= XP_016870218.1:p.Arg304=