Canonical Allele Identifier: CA202464549
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs752608925
gnomAD v2: 10-8116080-G-T
gnomAD v3: 10-8074117-G-T
gnomAD v4: 10-8074117-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074117G>T , CM000672.2:g.8074117G>T GRCh38
NC_000010.10:g.8116080G>T , CM000672.1:g.8116080G>T GRCh37
NC_000010.9:g.8156086G>T NCBI36
NG_015859.1:g.24414G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*94G>T ENSP00000341619.3:n.*94G>T
ENST00000379328.9:c.*94G>T MANE Select ENSP00000368632.3:n.*94G>T
ENST00000346208.3:c.*94G>T ENSP00000341619.3:n.*94G>T
ENST00000379328.7:c.*94G>T ENSP00000368632.3:n.*94G>T
NM_001002295.1:c.*94G>T NP_001002295.1:n.*94G>T
NM_002051.2:c.*94G>T NP_002042.1:n.*94G>T
XM_005252442.2:c.*94G>T XP_005252499.1:n.*94G>T
XM_005252443.3:c.*94G>T XP_005252500.1:n.*94G>T
XM_005252443.5:c.*94G>T XP_005252500.1:n.*94G>T
NM_001002295.2:c.*94G>T MANE Select NP_001002295.1:n.*94G>T
NM_002051.3:c.*94G>T NP_002042.1:n.*94G>T