Canonical Allele Identifier: CA375965610
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131483190
gnomAD v4: 10-8055879-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8055879A>C , CM000672.2:g.8055879A>C GRCh38
NC_000010.10:g.8097842A>C , CM000672.1:g.8097842A>C GRCh37
NC_000010.9:g.8137848A>C NCBI36
NG_015859.1:g.6176A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.224A>C ENSP00000341619.3:p.Tyr75Ser
ENST00000379328.9:c.224A>C MANE Select ENSP00000368632.3:p.Tyr75Ser
ENST00000481743.2:c.224A>C ENSP00000493486.1:p.Tyr75Ser
ENST00000643001.1:c.224A>C ENSP00000494284.1:p.Tyr75Ser
ENST00000346208.3:c.224A>C ENSP00000341619.3:p.Tyr75Ser
ENST00000379328.7:c.224A>C ENSP00000368632.3:p.Tyr75Ser
NM_001002295.1:c.224A>C NP_001002295.1:p.Tyr75Ser
NM_002051.2:c.224A>C NP_002042.1:p.Tyr75Ser
XM_005252442.2:c.224A>C XP_005252499.1:p.Tyr75Ser
XM_005252443.3:c.224A>C XP_005252500.1:p.Tyr75Ser
XM_005252443.5:c.224A>C XP_005252500.1:p.Tyr75Ser
XR_001747358.1:n.617+887T>G
NM_001002295.2:c.224A>C MANE Select NP_001002295.1:p.Tyr75Ser
NM_002051.3:c.224A>C NP_002042.1:p.Tyr75Ser