Canonical Allele Identifier: CA409554732
Gene: GATA5 HGNC NCBI

Linked Data

dbSNP Id: rs1555896747
gnomAD v2: 20-61048472-G-A
MyVariant Identifiers: chr20:g.61048472G>A (hg19) chr20:g.62473416G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62473416G>A , CM000682.2:g.62473416G>A GRCh38
NC_000020.10:g.61048472G>A , CM000682.1:g.61048472G>A GRCh37
NC_000020.9:g.60481867G>A NCBI36
NG_046963.1:g.7555C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252997.3:c.686C>T MANE Select ENSP00000252997.2:p.Pro229Leu
ENST00000252997.2:c.686C>T ENSP00000252997.2:p.Pro229Leu
NM_080473.4:c.686C>T NP_536721.1:p.Pro229Leu
XM_006723699.2:c.686C>T XP_006723762.1:p.Pro229Leu
XM_006723699.3:c.686C>T XP_006723762.1:p.Pro229Leu
NM_080473.5:c.686C>T MANE Select NP_536721.1:p.Pro229Leu
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