Canonical Allele Identifier: CA511136687
Gene: GATA5 HGNC NCBI

Linked Data

dbSNP Id: rs1555896744
gnomAD v2: 20-61048462-G-A
gnomAD v4: 20-62473406-G-A
MyVariant Identifiers: chr20:g.61048462G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62473406G>A , CM000682.2:g.62473406G>A GRCh38
NC_000020.10:g.61048462G>A , CM000682.1:g.61048462G>A GRCh37
NC_000020.9:g.60481857G>A NCBI36
NG_046963.1:g.7565C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252997.3:c.696C>T MANE Select ENSP00000252997.2:p.Arg232=
ENST00000252997.2:c.696C>T ENSP00000252997.2:p.Arg232=
NM_080473.4:c.696C>T NP_536721.1:p.Arg232=
XM_006723699.2:c.696C>T XP_006723762.1:p.Arg232=
XM_006723699.3:c.696C>T XP_006723762.1:p.Arg232=
NM_080473.5:c.696C>T MANE Select NP_536721.1:p.Arg232=
Search 100 bp 5'
Search 100 bp 3'