Canonical Allele Identifier: CA373871617
Gene: PSAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78300660T>A , CM000671.2:g.78300660T>A GRCh38
NC_000009.11:g.80915576T>A , CM000671.1:g.80915576T>A GRCh37
NC_000009.10:g.80105396T>A NCBI36
NG_012165.1:g.8518T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.119T>A MANE Select ENSP00000365773.3:p.Leu40His
ENST00000347159.6:c.119T>A ENSP00000317606.2:p.Leu40His
ENST00000376588.3:c.119T>A ENSP00000365773.3:p.Leu40His
NM_021154.4:c.119T>A NP_066977.1:p.Leu40His
NM_058179.3:c.119T>A NP_478059.1:p.Leu40His
NM_058179.4:c.119T>A MANE Select NP_478059.1:p.Leu40His
NM_021154.5:c.119T>A NP_066977.1:p.Leu40His