Canonical Allele Identifier: CA668881656
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1430500279
gnomAD v3: 10-8074038-C-T
gnomAD v4: 10-8074038-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074038C>T , CM000672.2:g.8074038C>T GRCh38
NC_000010.10:g.8116001C>T , CM000672.1:g.8116001C>T GRCh37
NC_000010.9:g.8156007C>T NCBI36
NG_015859.1:g.24335C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*15C>T ENSP00000341619.3:n.*15C>T
ENST00000379328.9:c.*15C>T MANE Select ENSP00000368632.3:n.*15C>T
ENST00000346208.3:c.*15C>T ENSP00000341619.3:n.*15C>T
ENST00000379328.7:c.*15C>T ENSP00000368632.3:n.*15C>T
ENST00000461472.1:n.869C>T
NM_001002295.1:c.*15C>T NP_001002295.1:n.*15C>T
NM_002051.2:c.*15C>T NP_002042.1:n.*15C>T
XM_005252442.2:c.*15C>T XP_005252499.1:n.*15C>T
XM_005252443.3:c.*15C>T XP_005252500.1:n.*15C>T
XM_005252443.5:c.*15C>T XP_005252500.1:n.*15C>T
NM_001002295.2:c.*15C>T MANE Select NP_001002295.1:n.*15C>T
NM_002051.3:c.*15C>T NP_002042.1:n.*15C>T