Canonical Allele Identifier: CA2608207671
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs2131523764
gnomAD v4: 10-8074073-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074073T>C , CM000672.2:g.8074073T>C GRCh38
NC_000010.10:g.8116036T>C , CM000672.1:g.8116036T>C GRCh37
NC_000010.9:g.8156042T>C NCBI36
NG_015859.1:g.24370T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*50T>C ENSP00000341619.3:n.*50T>C
ENST00000379328.9:c.*50T>C MANE Select ENSP00000368632.3:n.*50T>C
ENST00000346208.3:c.*50T>C ENSP00000341619.3:n.*50T>C
ENST00000379328.7:c.*50T>C ENSP00000368632.3:n.*50T>C
NM_001002295.1:c.*50T>C NP_001002295.1:n.*50T>C
NM_002051.2:c.*50T>C NP_002042.1:n.*50T>C
XM_005252442.2:c.*50T>C XP_005252499.1:n.*50T>C
XM_005252443.3:c.*50T>C XP_005252500.1:n.*50T>C
XM_005252443.5:c.*50T>C XP_005252500.1:n.*50T>C
NM_001002295.2:c.*50T>C MANE Select NP_001002295.1:n.*50T>C
NM_002051.3:c.*50T>C NP_002042.1:n.*50T>C
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