Canonical Allele Identifier: CA5404559

Gene: GATA3

Linked Data

• dbSNP Id: rs745424381
• ExAC: 10:8115817 A / C
• gnomAD v2: 10-8115817-A-C
• gnomAD v4: 10-8073854-A-C
• MyVariant Identifiers: chr10:g.8115817A>C (hg19) ; chr10:g.8073854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073854A>C , CM000672.2:g.8073854A>C	GRCh38
NC_000010.10:g.8115817A>C , CM000672.1:g.8115817A>C	GRCh37
NC_000010.9:g.8155823A>C	NCBI36
NG_015859.1:g.24151A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1163A>C	ENSP00000341619.3:p.Asn388Thr
ENST00000379328.9:c.1166A>C MANE Select	ENSP00000368632.3:p.Asn389Thr
ENST00000346208.3:c.1163A>C	ENSP00000341619.3:p.Asn388Thr
ENST00000379328.7:c.1166A>C	ENSP00000368632.3:p.Asn389Thr
ENST00000461472.1:n.685A>C
NM_001002295.1:c.1166A>C	NP_001002295.1:p.Asn389Thr
NM_002051.2:c.1163A>C	NP_002042.1:p.Asn388Thr
XM_005252442.2:c.1166A>C	XP_005252499.1:p.Asn389Thr
XM_005252443.3:c.1166A>C	XP_005252500.1:p.Asn389Thr
XM_005252443.5:c.1166A>C	XP_005252500.1:p.Asn389Thr
NM_001002295.2:c.1166A>C MANE Select	NP_001002295.1:p.Asn389Thr
NM_002051.3:c.1163A>C	NP_002042.1:p.Asn388Thr