Canonical Allele Identifier: CA409554687

Gene: GATA5

Linked Data

• gnomAD v4: 20-62473405-G-T
• MyVariant Identifiers: chr20:g.61048461G>T (hg19) ; chr20:g.62473405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62473405G>T , CM000682.2:g.62473405G>T	GRCh38
NC_000020.10:g.61048461G>T , CM000682.1:g.61048461G>T	GRCh37
NC_000020.9:g.60481856G>T	NCBI36
NG_046963.1:g.7566C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252997.3:c.697C>A MANE Select	ENSP00000252997.2:p.Leu233Met
ENST00000252997.2:c.697C>A	ENSP00000252997.2:p.Leu233Met
NM_080473.4:c.697C>A	NP_536721.1:p.Leu233Met
XM_006723699.2:c.697C>A	XP_006723762.1:p.Leu233Met
XM_006723699.3:c.697C>A	XP_006723762.1:p.Leu233Met
NM_080473.5:c.697C>A MANE Select	NP_536721.1:p.Leu233Met