Canonical Allele Identifier: CA375229452
Gene: ASS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480407A>T , CM000671.2:g.130480407A>T GRCh38
NC_000009.11:g.133355794A>T , CM000671.1:g.133355794A>T GRCh37
NC_000009.10:g.132345615A>T NCBI36
NG_011542.1:g.40701A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.796A>T MANE Select ENSP00000253004.6:p.Ile266Phe
ENST00000352480.9:c.796A>T ENSP00000253004.6:p.Ile266Phe
ENST00000372386.6:n.67A>T
ENST00000372393.7:c.796A>T ENSP00000361469.2:p.Ile266Phe
ENST00000372394.5:c.796A>T ENSP00000361471.1:p.Ile266Phe
ENST00000470849.4:n.521A>T
ENST00000492400.5:n.305A>T
ENST00000493984.6:n.573A>T
NM_000050.4:c.796A>T NP_000041.2:p.Ile266Phe
NM_054012.3:c.796A>T NP_446464.1:p.Ile266Phe
XM_005272200.2:c.796A>T XP_005272257.1:p.Ile266Phe
XM_011518705.1:c.910A>T XP_011517007.1:p.Ile304Phe
XM_005272200.3:c.796A>T XP_005272257.1:p.Ile266Phe
XM_011518705.2:c.910A>T XP_011517007.1:p.Ile304Phe
XM_017014729.1:c.892A>T XP_016870218.1:p.Ile298Phe
NM_054012.4:c.796A>T MANE Select NP_446464.1:p.Ile266Phe