Canonical Allele Identifier: CA588653595
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1231699471
gnomAD v2: 9-80944910-G-A
gnomAD v3: 9-78329994-G-A
gnomAD v4: 9-78329994-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329994G>A , CM000671.2:g.78329994G>A GRCh38
NC_000009.11:g.80944910G>A , CM000671.1:g.80944910G>A GRCh37
NC_000009.10:g.80134730G>A NCBI36
NG_012165.1:g.37852G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*908G>A MANE Select ENSP00000365773.3:n.*908G>A
ENST00000376588.3:c.*908G>A ENSP00000365773.3:n.*908G>A
NM_021154.4:c.*908G>A NP_066977.1:n.*908G>A
NM_058179.3:c.*908G>A NP_478059.1:n.*908G>A
NM_058179.4:c.*908G>A MANE Select NP_478059.1:n.*908G>A
NM_021154.5:c.*908G>A NP_066977.1:n.*908G>A