Canonical Allele Identifier: CA373871589
Gene: PSAT1 HGNC NCBI

Linked Data

gnomAD v4: 9-78300654-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300654G>T , CM000671.2:g.78300654G>T GRCh38
NC_000009.11:g.80915570G>T , CM000671.1:g.80915570G>T GRCh37
NC_000009.10:g.80105390G>T NCBI36
NG_012165.1:g.8512G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.113G>T MANE Select ENSP00000365773.3:p.Ser38Ile
ENST00000347159.6:c.113G>T ENSP00000317606.2:p.Ser38Ile
ENST00000376588.3:c.113G>T ENSP00000365773.3:p.Ser38Ile
NM_021154.4:c.113G>T NP_066977.1:p.Ser38Ile
NM_058179.3:c.113G>T NP_478059.1:p.Ser38Ile
NM_058179.4:c.113G>T MANE Select NP_478059.1:p.Ser38Ile
NM_021154.5:c.113G>T NP_066977.1:p.Ser38Ile