Canonical Allele Identifier: CA2374283513
Gene: GATA5 HGNC NCBI

Linked Data

dbSNP Id: rs1989766072
gnomAD v4: 20-62473310-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62473310C>T , CM000682.2:g.62473310C>T GRCh38
NC_000020.10:g.61048366C>T , CM000682.1:g.61048366C>T GRCh37
NC_000020.9:g.60481761C>T NCBI36
NG_046963.1:g.7661G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252997.3:c.699+93G>A MANE Select ENSP00000252997.2:n.699+93G>A
ENST00000252997.2:c.699+93G>A ENSP00000252997.2:n.699+93G>A
NM_080473.4:c.699+93G>A NP_536721.1:n.699+93G>A
XM_006723699.2:c.699+93G>A XP_006723762.1:n.699+93G>A
XM_006723699.3:c.699+93G>A XP_006723762.1:n.699+93G>A
NM_080473.5:c.699+93G>A MANE Select NP_536721.1:n.699+93G>A
Search 100 bp 5'
Search 100 bp 3'