Canonical Allele Identifier: CA588653585
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs889437649
gnomAD v2: 9-80944785-C-A
gnomAD v3: 9-78329869-C-A
gnomAD v4: 9-78329869-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329869C>A , CM000671.2:g.78329869C>A GRCh38
NC_000009.11:g.80944785C>A , CM000671.1:g.80944785C>A GRCh37
NC_000009.10:g.80134605C>A NCBI36
NG_012165.1:g.37727C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*783C>A MANE Select ENSP00000365773.3:n.*783C>A
ENST00000376588.3:c.*783C>A ENSP00000365773.3:n.*783C>A
NM_021154.4:c.*783C>A NP_066977.1:n.*783C>A
NM_058179.3:c.*783C>A NP_478059.1:n.*783C>A
NM_058179.4:c.*783C>A MANE Select NP_478059.1:n.*783C>A
NM_021154.5:c.*783C>A NP_066977.1:n.*783C>A