Canonical Allele Identifier: CA346355
Gene: GATA5 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.62475514T>C
GRCh37 chr20:g.61050570T>C
Revel Score:
ENST00000370545 0.557
ENST00000540404 0.557
ENST00000252997 (MANE Select) 0.557
gnomAD v2:
20:61050570 T / C
gnomAD v3:
20:62475514 T / C
gnomAD v4:
chr20-62475514-T-C
Joint Max Group AF 0.00779813 (NFE)
Genomes Max Group AF 0.00711822 (NFE)
Exomes Max Group AF 0.00781208 (NFE)
ClinVar Allele:
178759
ClinVar RCV:
RCV000157239
RCV001689707
RCV003917539
ClinVar Variation:
180366
dbSNP:
113068438
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62475514T>C , CM000682.2:g.62475514T>C GRCh38
NC_000020.10:g.61050570T>C , CM000682.1:g.61050570T>C GRCh37
NC_000020.9:g.60483965T>C NCBI36
NG_046963.1:g.5457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252997.3:c.8A>G MANE Select ENSP00000252997.2:p.Gln3Arg
ENST00000252997.2:c.8A>G ENSP00000252997.2:p.Gln3Arg
NM_080473.4:c.8A>G NP_536721.1:p.Gln3Arg
XM_006723699.2:c.8A>G XP_006723762.1:p.Gln3Arg
XM_006723699.3:c.8A>G XP_006723762.1:p.Gln3Arg
NM_080473.5:c.8A>G MANE Select NP_536721.1:p.Gln3Arg
Search 100 bp 5'
Search 100 bp 3'