Canonical Allele Identifier: CA511136717
Gene: GATA5 HGNC NCBI

Linked Data

gnomAD v4: 20-62473412-C-T
MyVariant Identifiers: chr20:g.61048468C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62473412C>T , CM000682.2:g.62473412C>T GRCh38
NC_000020.10:g.61048468C>T , CM000682.1:g.61048468C>T GRCh37
NC_000020.9:g.60481863C>T NCBI36
NG_046963.1:g.7559G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252997.3:c.690G>A MANE Select ENSP00000252997.2:p.Gln230=
ENST00000252997.2:c.690G>A ENSP00000252997.2:p.Gln230=
NM_080473.4:c.690G>A NP_536721.1:p.Gln230=
XM_006723699.2:c.690G>A XP_006723762.1:p.Gln230=
XM_006723699.3:c.690G>A XP_006723762.1:p.Gln230=
NM_080473.5:c.690G>A MANE Select NP_536721.1:p.Gln230=
Search 100 bp 5'
Search 100 bp 3'