Canonical Allele Identifier: CA373872542
Gene: PSAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304918C>G , CM000671.2:g.78304918C>G GRCh38
NC_000009.11:g.80919834C>G , CM000671.1:g.80919834C>G GRCh37
NC_000009.10:g.80109654C>G NCBI36
NG_012165.1:g.12776C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.375C>G MANE Select ENSP00000365773.3:p.His125Gln
ENST00000347159.6:c.375C>G ENSP00000317606.2:p.His125Gln
ENST00000376588.3:c.375C>G ENSP00000365773.3:p.His125Gln
NM_021154.4:c.375C>G NP_066977.1:p.His125Gln
NM_058179.3:c.375C>G NP_478059.1:p.His125Gln
NM_058179.4:c.375C>G MANE Select NP_478059.1:p.His125Gln
NM_021154.5:c.375C>G NP_066977.1:p.His125Gln