Canonical Allele Identifier: CA194441236
Gene: PSAT1 HGNC NCBI

Linked Data

dbSNP Id: rs983952530
gnomAD v4: 9-78304959-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78304959G>A , CM000671.2:g.78304959G>A GRCh38
NC_000009.11:g.80919875G>A , CM000671.1:g.80919875G>A GRCh37
NC_000009.10:g.80109695G>A NCBI36
NG_012165.1:g.12817G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376588.4:c.397+19G>A MANE Select ENSP00000365773.3:n.397+19G>A
ENST00000347159.6:c.397+19G>A ENSP00000317606.2:n.397+19G>A
ENST00000376588.3:c.397+19G>A ENSP00000365773.3:n.397+19G>A
NM_021154.4:c.397+19G>A NP_066977.1:n.397+19G>A
NM_058179.3:c.397+19G>A NP_478059.1:n.397+19G>A
NM_058179.4:c.397+19G>A MANE Select NP_478059.1:n.397+19G>A
NM_021154.5:c.397+19G>A NP_066977.1:n.397+19G>A