Canonical Allele Identifier: CA409554722
Gene: GATA5 HGNC NCBI

Linked Data

dbSNP Id: rs1555896746
gnomAD v2: 20-61048469-T-G
gnomAD v4: 20-62473413-T-G
MyVariant Identifiers: chr20:g.61048469T>G (hg19) chr20:g.62473413T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62473413T>G , CM000682.2:g.62473413T>G GRCh38
NC_000020.10:g.61048469T>G , CM000682.1:g.61048469T>G GRCh37
NC_000020.9:g.60481864T>G NCBI36
NG_046963.1:g.7558A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252997.3:c.689A>C MANE Select ENSP00000252997.2:p.Gln230Pro
ENST00000252997.2:c.689A>C ENSP00000252997.2:p.Gln230Pro
NM_080473.4:c.689A>C NP_536721.1:p.Gln230Pro
XM_006723699.2:c.689A>C XP_006723762.1:p.Gln230Pro
XM_006723699.3:c.689A>C XP_006723762.1:p.Gln230Pro
NM_080473.5:c.689A>C MANE Select NP_536721.1:p.Gln230Pro
Search 100 bp 5'
Search 100 bp 3'