Canonical Allele Identifier: CA1881271948
Community Standard Title: NM_054012.4(ASS1):c.805G= (p.Val269=)
Gene: ASS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480416G= , CM000671.2:g.130480416G= GRCh38
NC_000009.11:g.133355803G= , CM000671.1:g.133355803G= GRCh37
NC_000009.10:g.132345624G= NCBI36
NG_011542.1:g.40710G=

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.805G= MANE Select NP_446464.1:p.Val269=
ENST00000352480.10:c.805G= MANE Select ENSP00000253004.6:p.Val269=
NM_000050.4:c.805G= NP_000041.2:p.Val269=
NM_054012.3:c.805G= NP_446464.1:p.Val269=
ENST00000352480.9:c.805G= ENSP00000253004.6:p.Val269=
ENST00000372386.6:n.76G=
ENST00000372393.7:c.805G= ENSP00000361469.2:p.Val269=
ENST00000372394.5:c.805G= ENSP00000361471.1:p.Val269=
ENST00000470849.4:n.530G=
ENST00000492400.5:n.314G=
ENST00000493984.6:n.582G=
XM_005272200.2:c.805G= XP_005272257.1:p.Val269=
XM_005272200.3:c.805G= XP_005272257.1:p.Val269=
XM_011518705.1:c.919G= XP_011517007.1:p.Val307=
XM_011518705.2:c.919G= XP_011517007.1:p.Val307=
XM_017014729.1:c.901G= XP_016870218.1:p.Val301=