Canonical Allele Identifier: CA202454793
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1030189256
gnomAD v3: 10-8055971-T-C
gnomAD v4: 10-8055971-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8055971T>C , CM000672.2:g.8055971T>C GRCh38
NC_000010.10:g.8097934T>C , CM000672.1:g.8097934T>C GRCh37
NC_000010.9:g.8137940T>C NCBI36
NG_015859.1:g.6268T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.241+75T>C ENSP00000341619.3:n.241+75T>C
ENST00000379328.9:c.241+75T>C MANE Select ENSP00000368632.3:n.241+75T>C
ENST00000481743.2:c.241+75T>C ENSP00000493486.1:n.241+75T>C
ENST00000346208.3:c.241+75T>C ENSP00000341619.3:n.241+75T>C
ENST00000379328.7:c.241+75T>C ENSP00000368632.3:n.241+75T>C
NM_001002295.1:c.241+75T>C NP_001002295.1:n.241+75T>C
NM_002051.2:c.241+75T>C NP_002042.1:n.241+75T>C
XM_005252442.2:c.241+75T>C XP_005252499.1:n.241+75T>C
XM_005252443.3:c.241+75T>C XP_005252500.1:n.241+75T>C
XM_005252443.5:c.241+75T>C XP_005252500.1:n.241+75T>C
XR_001747358.1:n.617+795A>G
NM_001002295.2:c.241+75T>C MANE Select NP_001002295.1:n.241+75T>C
NM_002051.3:c.241+75T>C NP_002042.1:n.241+75T>C