Canonical Allele Identifier: CA9946284

Gene: GATA5

Linked Data

• ClinVar Variation Id: 427081
• ClinVar RCV Id: RCV000489598
• dbSNP Id: rs782773387
• ExAC: 20:61048608 C / G
• gnomAD v2: 20-61048608-C-G
• gnomAD v3: 20-62473552-C-G
• gnomAD v4: 20-62473552-C-G
• MyVariant Identifiers: chr20:g.61048608C>G (hg19) ; chr20:g.62473552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62473552C>G , CM000682.2:g.62473552C>G	GRCh38
NC_000020.10:g.61048608C>G , CM000682.1:g.61048608C>G	GRCh37
NC_000020.9:g.60482003C>G	NCBI36
NG_046963.1:g.7419G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252997.3:c.550G>C MANE Select	ENSP00000252997.2:p.Gly184Arg
ENST00000252997.2:c.550G>C	ENSP00000252997.2:p.Gly184Arg
NM_080473.4:c.550G>C	NP_536721.1:p.Gly184Arg
XM_006723699.2:c.550G>C	XP_006723762.1:p.Gly184Arg
XM_006723699.3:c.550G>C	XP_006723762.1:p.Gly184Arg
NM_080473.5:c.550G>C MANE Select	NP_536721.1:p.Gly184Arg