Canonical Allele Identifier: CA375223571
Gene: ASS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130452286A>T , CM000671.2:g.130452286A>T GRCh38
NC_000009.11:g.133327673A>T , CM000671.1:g.133327673A>T GRCh37
NC_000009.10:g.132317494A>T NCBI36
NG_011542.1:g.12580A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.58A>T MANE Select ENSP00000253004.6:p.Ile20Phe
ENST00000352480.9:c.58A>T ENSP00000253004.6:p.Ile20Phe
ENST00000372393.7:c.58A>T ENSP00000361469.2:p.Ile20Phe
ENST00000372394.5:c.58A>T ENSP00000361471.1:p.Ile20Phe
ENST00000422569.5:c.58A>T ENSP00000394212.1:p.Ile20Phe
ENST00000443588.1:c.58A>T ENSP00000397785.1:p.Ile20Phe
NM_000050.4:c.58A>T NP_000041.2:p.Ile20Phe
NM_054012.3:c.58A>T NP_446464.1:p.Ile20Phe
XM_005272200.2:c.58A>T XP_005272257.1:p.Ile20Phe
XM_011518705.1:c.172A>T XP_011517007.1:p.Ile58Phe
XM_005272200.3:c.58A>T XP_005272257.1:p.Ile20Phe
XM_011518705.2:c.172A>T XP_011517007.1:p.Ile58Phe
XM_017014729.1:c.154A>T XP_016870218.1:p.Ile52Phe
NM_054012.4:c.58A>T MANE Select NP_446464.1:p.Ile20Phe