Canonical Allele Identifier: CA375970727
Gene: GATA3 HGNC NCBI

Linked Data

dbSNP Id: rs1156455762
gnomAD v2: 10-8100739-G-C
gnomAD v4: 10-8058776-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8058776G>C , CM000672.2:g.8058776G>C GRCh38
NC_000010.10:g.8100739G>C , CM000672.1:g.8100739G>C GRCh37
NC_000010.9:g.8140745G>C NCBI36
NG_015859.1:g.9073G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.713G>C ENSP00000341619.3:p.Ser238Thr
ENST00000379328.9:c.713G>C MANE Select ENSP00000368632.3:p.Ser238Thr
ENST00000346208.3:c.713G>C ENSP00000341619.3:p.Ser238Thr
ENST00000379328.7:c.713G>C ENSP00000368632.3:p.Ser238Thr
ENST00000461472.1:n.378G>C
NM_001002295.1:c.713G>C NP_001002295.1:p.Ser238Thr
NM_002051.2:c.713G>C NP_002042.1:p.Ser238Thr
XM_005252442.2:c.713G>C XP_005252499.1:p.Ser238Thr
XM_005252443.3:c.713G>C XP_005252500.1:p.Ser238Thr
XM_005252443.5:c.713G>C XP_005252500.1:p.Ser238Thr
NM_001002295.2:c.713G>C MANE Select NP_001002295.1:p.Ser238Thr
NM_002051.3:c.713G>C NP_002042.1:p.Ser238Thr