Canonical Allele Identifier: CA375970199

Gene: GATA3

Linked Data

• gnomAD v4: 10-8058709-C-T
• MyVariant Identifiers: chr10:g.8100672C>T (hg19) ; chr10:g.8058709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058709C>T , CM000672.2:g.8058709C>T	GRCh38
NC_000010.10:g.8100672C>T , CM000672.1:g.8100672C>T	GRCh37
NC_000010.9:g.8140678C>T	NCBI36
NG_015859.1:g.9006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.646C>T	ENSP00000341619.3:p.His216Tyr
ENST00000379328.9:c.646C>T MANE Select	ENSP00000368632.3:p.His216Tyr
ENST00000346208.3:c.646C>T	ENSP00000341619.3:p.His216Tyr
ENST00000379328.7:c.646C>T	ENSP00000368632.3:p.His216Tyr
ENST00000461472.1:n.311C>T
NM_001002295.1:c.646C>T	NP_001002295.1:p.His216Tyr
NM_002051.2:c.646C>T	NP_002042.1:p.His216Tyr
XM_005252442.2:c.646C>T	XP_005252499.1:p.His216Tyr
XM_005252443.3:c.646C>T	XP_005252500.1:p.His216Tyr
XM_005252443.5:c.646C>T	XP_005252500.1:p.His216Tyr
NM_001002295.2:c.646C>T MANE Select	NP_001002295.1:p.His216Tyr
NM_002051.3:c.646C>T	NP_002042.1:p.His216Tyr