Canonical Allele Identifier: CA375969691

Gene: GATA3

Linked Data

• dbSNP Id: rs2131490262
• gnomAD v4: 10-8058645-G-A
• MyVariant Identifiers: chr10:g.8100608G>A (hg19) ; chr10:g.8058645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058645G>A , CM000672.2:g.8058645G>A	GRCh38
NC_000010.10:g.8100608G>A , CM000672.1:g.8100608G>A	GRCh37
NC_000010.9:g.8140614G>A	NCBI36
NG_015859.1:g.8942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.582G>A	ENSP00000341619.3:p.Met194Ile
ENST00000379328.9:c.582G>A MANE Select	ENSP00000368632.3:p.Met194Ile
ENST00000346208.3:c.582G>A	ENSP00000341619.3:p.Met194Ile
ENST00000379328.7:c.582G>A	ENSP00000368632.3:p.Met194Ile
ENST00000461472.1:n.247G>A
NM_001002295.1:c.582G>A	NP_001002295.1:p.Met194Ile
NM_002051.2:c.582G>A	NP_002042.1:p.Met194Ile
XM_005252442.2:c.582G>A	XP_005252499.1:p.Met194Ile
XM_005252443.3:c.582G>A	XP_005252500.1:p.Met194Ile
XM_005252443.5:c.582G>A	XP_005252500.1:p.Met194Ile
NM_001002295.2:c.582G>A MANE Select	NP_001002295.1:p.Met194Ile
NM_002051.3:c.582G>A	NP_002042.1:p.Met194Ile