Canonical Allele Identifier: CA467385584
Gene: ASS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133364733C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130489346C>A , CM000671.2:g.130489346C>A GRCh38
NC_000009.11:g.133364733C>A , CM000671.1:g.133364733C>A GRCh37
NC_000009.10:g.132354554C>A NCBI36
NG_011542.1:g.49640C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.852C>A MANE Select ENSP00000253004.6:p.Thr284=
ENST00000352480.9:c.852C>A ENSP00000253004.6:p.Thr284=
ENST00000372386.6:n.123C>A
ENST00000372393.7:c.852C>A ENSP00000361469.2:p.Thr284=
ENST00000372394.5:c.852C>A ENSP00000361471.1:p.Thr284=
ENST00000470849.4:n.577C>A
ENST00000492400.5:n.361C>A
ENST00000493984.6:n.629C>A
NM_000050.4:c.852C>A NP_000041.2:p.Thr284=
NM_054012.3:c.852C>A NP_446464.1:p.Thr284=
XM_005272200.2:c.852C>A XP_005272257.1:p.Thr284=
XM_011518705.1:c.966C>A XP_011517007.1:p.Thr322=
XM_005272200.3:c.852C>A XP_005272257.1:p.Thr284=
XM_011518705.2:c.966C>A XP_011517007.1:p.Thr322=
XM_017014729.1:c.948C>A XP_016870218.1:p.Thr316=
NM_054012.4:c.852C>A MANE Select NP_446464.1:p.Thr284=