Canonical Allele Identifier: CA409553968
Gene: GATA5 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.62466496G>T
GRCh37 chr20:g.61041552G>T
Revel Score:
ENST00000370545 0.925
ENST00000540404 0.925
ENST00000252997 (MANE Select) 0.925
ClinVar Allele:
1241902
ClinVar RCV:
RCV001650504
RCV003771812
ClinVar Variation:
1251953
dbSNP:
143901995
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62466496G>T , CM000682.2:g.62466496G>T GRCh38
NC_000020.10:g.61041552G>T , CM000682.1:g.61041552G>T GRCh37
NC_000020.9:g.60474947G>T NCBI36
NG_046963.1:g.14475C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252997.3:c.755C>A MANE Select ENSP00000252997.2:p.Thr252Lys
ENST00000252997.2:c.755C>A ENSP00000252997.2:p.Thr252Lys
NM_080473.4:c.755C>A NP_536721.1:p.Thr252Lys
XM_006723699.2:c.755C>A XP_006723762.1:p.Thr252Lys
XM_006723699.3:c.755C>A XP_006723762.1:p.Thr252Lys
NM_080473.5:c.755C>A MANE Select NP_536721.1:p.Thr252Lys
Search 100 bp 5'
Search 100 bp 3'