Canonical Allele Identifier: CA373872573
Gene: PSAT1 HGNC NCBI

Linked Data

gnomAD v4: 9-78304933-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304933T>G , CM000671.2:g.78304933T>G GRCh38
NC_000009.11:g.80919849T>G , CM000671.1:g.80919849T>G GRCh37
NC_000009.10:g.80109669T>G NCBI36
NG_012165.1:g.12791T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.390T>G MANE Select ENSP00000365773.3:p.Ser130Arg
ENST00000347159.6:c.390T>G ENSP00000317606.2:p.Ser130Arg
ENST00000376588.3:c.390T>G ENSP00000365773.3:p.Ser130Arg
NM_021154.4:c.390T>G NP_066977.1:p.Ser130Arg
NM_058179.3:c.390T>G NP_478059.1:p.Ser130Arg
NM_058179.4:c.390T>G MANE Select NP_478059.1:p.Ser130Arg
NM_021154.5:c.390T>G NP_066977.1:p.Ser130Arg