Canonical Allele Identifier: CA375976073

Gene: GATA3

Linked Data

• dbSNP Id: rs2131523180
• gnomAD v4: 10-8074015-A-T
• MyVariant Identifiers: chr10:g.8115978A>T (hg19) ; chr10:g.8074015A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8074015A>T , CM000672.2:g.8074015A>T	GRCh38
NC_000010.10:g.8115978A>T , CM000672.1:g.8115978A>T	GRCh37
NC_000010.9:g.8155984A>T	NCBI36
NG_015859.1:g.24312A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1324A>T	ENSP00000341619.3:p.Met442Leu
ENST00000379328.9:c.1327A>T MANE Select	ENSP00000368632.3:p.Met443Leu
ENST00000346208.3:c.1324A>T	ENSP00000341619.3:p.Met442Leu
ENST00000379328.7:c.1327A>T	ENSP00000368632.3:p.Met443Leu
ENST00000461472.1:n.846A>T
NM_001002295.1:c.1327A>T	NP_001002295.1:p.Met443Leu
NM_002051.2:c.1324A>T	NP_002042.1:p.Met442Leu
XM_005252442.2:c.1327A>T	XP_005252499.1:p.Met443Leu
XM_005252443.3:c.1327A>T	XP_005252500.1:p.Met443Leu
XM_005252443.5:c.1327A>T	XP_005252500.1:p.Met443Leu
NM_001002295.2:c.1327A>T MANE Select	NP_001002295.1:p.Met443Leu
NM_002051.3:c.1324A>T	NP_002042.1:p.Met442Leu