Canonical Allele Identifier: CA375975983

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1064809
• ClinVar RCV Id: RCV001374962 ; RCV001533196
• dbSNP Id: rs1832975214
• gnomAD v4: 10-8073994-C-G
• MyVariant Identifiers: chr10:g.8115957C>G (hg19) ; chr10:g.8073994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073994C>G , CM000672.2:g.8073994C>G	GRCh38
NC_000010.10:g.8115957C>G , CM000672.1:g.8115957C>G	GRCh37
NC_000010.9:g.8155963C>G	NCBI36
NG_015859.1:g.24291C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1303C>G	ENSP00000341619.3:p.Pro435Ala
ENST00000379328.9:c.1306C>G MANE Select	ENSP00000368632.3:p.Pro436Ala
ENST00000346208.3:c.1303C>G	ENSP00000341619.3:p.Pro435Ala
ENST00000379328.7:c.1306C>G	ENSP00000368632.3:p.Pro436Ala
ENST00000461472.1:n.825C>G
NM_001002295.1:c.1306C>G	NP_001002295.1:p.Pro436Ala
NM_002051.2:c.1303C>G	NP_002042.1:p.Pro435Ala
XM_005252442.2:c.1306C>G	XP_005252499.1:p.Pro436Ala
XM_005252443.3:c.1306C>G	XP_005252500.1:p.Pro436Ala
XM_005252443.5:c.1306C>G	XP_005252500.1:p.Pro436Ala
NM_001002295.2:c.1306C>G MANE Select	NP_001002295.1:p.Pro436Ala
NM_002051.3:c.1303C>G	NP_002042.1:p.Pro435Ala