Canonical Allele Identifier: CA588653586
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1278912566
gnomAD v2: 9-80944799-A-G
gnomAD v3: 9-78329883-A-G
gnomAD v4: 9-78329883-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78329883A>G , CM000671.2:g.78329883A>G GRCh38
NC_000009.11:g.80944799A>G , CM000671.1:g.80944799A>G GRCh37
NC_000009.10:g.80134619A>G NCBI36
NG_012165.1:g.37741A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376588.4:c.*797A>G MANE Select ENSP00000365773.3:n.*797A>G
ENST00000376588.3:c.*797A>G ENSP00000365773.3:n.*797A>G
NM_021154.4:c.*797A>G NP_066977.1:n.*797A>G
NM_058179.3:c.*797A>G NP_478059.1:n.*797A>G
NM_058179.4:c.*797A>G MANE Select NP_478059.1:n.*797A>G
NM_021154.5:c.*797A>G NP_066977.1:n.*797A>G