Canonical Allele Identifier: CA375969453

Gene: GATA3

Linked Data

• ClinVar Variation Id: 2896336
• ClinVar RCV Id: RCV003730879
• dbSNP Id: rs1479744809
• gnomAD v2: 10-8100588-G-C
• gnomAD v3: 10-8058625-G-C
• gnomAD v4: 10-8058625-G-C
• MyVariant Identifiers: chr10:g.8100588G>C (hg19) ; chr10:g.8058625G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058625G>C , CM000672.2:g.8058625G>C	GRCh38
NC_000010.10:g.8100588G>C , CM000672.1:g.8100588G>C	GRCh37
NC_000010.9:g.8140594G>C	NCBI36
NG_015859.1:g.8922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.562G>C	ENSP00000341619.3:p.Val188Leu
ENST00000379328.9:c.562G>C MANE Select	ENSP00000368632.3:p.Val188Leu
ENST00000346208.3:c.562G>C	ENSP00000341619.3:p.Val188Leu
ENST00000379328.7:c.562G>C	ENSP00000368632.3:p.Val188Leu
ENST00000461472.1:n.227G>C
NM_001002295.1:c.562G>C	NP_001002295.1:p.Val188Leu
NM_002051.2:c.562G>C	NP_002042.1:p.Val188Leu
XM_005252442.2:c.562G>C	XP_005252499.1:p.Val188Leu
XM_005252443.3:c.562G>C	XP_005252500.1:p.Val188Leu
XM_005252443.5:c.562G>C	XP_005252500.1:p.Val188Leu
NM_001002295.2:c.562G>C MANE Select	NP_001002295.1:p.Val188Leu
NM_002051.3:c.562G>C	NP_002042.1:p.Val188Leu