Canonical Allele Identifier: CA375970003
Gene: GATA3 HGNC NCBI

Linked Data

gnomAD v4: 10-8058688-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058688G>T , CM000672.2:g.8058688G>T GRCh38
NC_000010.10:g.8100651G>T , CM000672.1:g.8100651G>T GRCh37
NC_000010.9:g.8140657G>T NCBI36
NG_015859.1:g.8985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.625G>T ENSP00000341619.3:p.Gly209Cys
ENST00000379328.9:c.625G>T MANE Select ENSP00000368632.3:p.Gly209Cys
ENST00000346208.3:c.625G>T ENSP00000341619.3:p.Gly209Cys
ENST00000379328.7:c.625G>T ENSP00000368632.3:p.Gly209Cys
ENST00000461472.1:n.290G>T
NM_001002295.1:c.625G>T NP_001002295.1:p.Gly209Cys
NM_002051.2:c.625G>T NP_002042.1:p.Gly209Cys
XM_005252442.2:c.625G>T XP_005252499.1:p.Gly209Cys
XM_005252443.3:c.625G>T XP_005252500.1:p.Gly209Cys
XM_005252443.5:c.625G>T XP_005252500.1:p.Gly209Cys
NM_001002295.2:c.625G>T MANE Select NP_001002295.1:p.Gly209Cys
NM_002051.3:c.625G>T NP_002042.1:p.Gly209Cys