Canonical Allele Identifier: CA591512392
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1480783168
gnomAD v2: 10-8116034-C-A
gnomAD v4: 10-8074071-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8074071C>A , CM000672.2:g.8074071C>A GRCh38
NC_000010.10:g.8116034C>A , CM000672.1:g.8116034C>A GRCh37
NC_000010.9:g.8156040C>A NCBI36
NG_015859.1:g.24368C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.*48C>A ENSP00000341619.3:n.*48C>A
ENST00000379328.9:c.*48C>A MANE Select ENSP00000368632.3:n.*48C>A
ENST00000346208.3:c.*48C>A ENSP00000341619.3:n.*48C>A
ENST00000379328.7:c.*48C>A ENSP00000368632.3:n.*48C>A
NM_001002295.1:c.*48C>A NP_001002295.1:n.*48C>A
NM_002051.2:c.*48C>A NP_002042.1:n.*48C>A
XM_005252442.2:c.*48C>A XP_005252499.1:n.*48C>A
XM_005252443.3:c.*48C>A XP_005252500.1:n.*48C>A
XM_005252443.5:c.*48C>A XP_005252500.1:n.*48C>A
NM_001002295.2:c.*48C>A MANE Select NP_001002295.1:n.*48C>A
NM_002051.3:c.*48C>A NP_002042.1:n.*48C>A