Canonical Allele Identifier: CA1881279162
Community Standard Title: NM_054012.4(ASS1):c.1087C= (p.Arg363=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130494983C= , CM000671.2:g.130494983C= GRCh38
NC_000009.11:g.133370370C= , CM000671.1:g.133370370C= GRCh37
NC_000009.10:g.132360191C= NCBI36
NG_011542.1:g.55277C=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.1087C= MANE Select NP_446464.1:p.Arg363=
ENST00000352480.10:c.1087C= MANE Select ENSP00000253004.6:p.Arg363=
NM_000050.4:c.1087C= NP_000041.2:p.Arg363=
NM_054012.3:c.1087C= NP_446464.1:p.Arg363=
ENST00000352480.9:c.1087C= ENSP00000253004.6:p.Arg363=
ENST00000372386.6:n.358C=
ENST00000372393.7:c.1087C= ENSP00000361469.2:p.Arg363=
ENST00000372394.5:c.1087C= ENSP00000361471.1:p.Arg363=
XM_005272200.2:c.1087C= XP_005272257.1:p.Arg363=
XM_005272200.3:c.1087C= XP_005272257.1:p.Arg363=
XM_011518705.1:c.1201C= XP_011517007.1:p.Arg401=
XM_011518705.2:c.1201C= XP_011517007.1:p.Arg401=
XM_017014729.1:c.1183C= XP_016870218.1:p.Arg395=
XR_930393.1:n.1060-2726G=
XR_930393.2:n.1102-2726G=