Canonical Allele Identifier: CA194419480
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs748940129
gnomAD v3: 9-78329979-G-A
gnomAD v4: 9-78329979-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329979G>A , CM000671.2:g.78329979G>A GRCh38
NC_000009.11:g.80944895G>A , CM000671.1:g.80944895G>A GRCh37
NC_000009.10:g.80134715G>A NCBI36
NG_012165.1:g.37837G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*893G>A MANE Select ENSP00000365773.3:n.*893G>A
ENST00000376588.3:c.*893G>A ENSP00000365773.3:n.*893G>A
NM_021154.4:c.*893G>A NP_066977.1:n.*893G>A
NM_058179.3:c.*893G>A NP_478059.1:n.*893G>A
NM_058179.4:c.*893G>A MANE Select NP_478059.1:n.*893G>A
NM_021154.5:c.*893G>A NP_066977.1:n.*893G>A