Canonical Allele Identifier: CA375970228

Gene: GATA3

Linked Data

• dbSNP Id: rs568425942
• gnomAD v4: 10-8058712-C-T
• MyVariant Identifiers: chr10:g.8100675C>T (hg19) ; chr10:g.8058712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058712C>T , CM000672.2:g.8058712C>T	GRCh38
NC_000010.10:g.8100675C>T , CM000672.1:g.8100675C>T	GRCh37
NC_000010.9:g.8140681C>T	NCBI36
NG_015859.1:g.9009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.649C>T	ENSP00000341619.3:p.His217Tyr
ENST00000379328.9:c.649C>T MANE Select	ENSP00000368632.3:p.His217Tyr
ENST00000346208.3:c.649C>T	ENSP00000341619.3:p.His217Tyr
ENST00000379328.7:c.649C>T	ENSP00000368632.3:p.His217Tyr
ENST00000461472.1:n.314C>T
NM_001002295.1:c.649C>T	NP_001002295.1:p.His217Tyr
NM_002051.2:c.649C>T	NP_002042.1:p.His217Tyr
XM_005252442.2:c.649C>T	XP_005252499.1:p.His217Tyr
XM_005252443.3:c.649C>T	XP_005252500.1:p.His217Tyr
XM_005252443.5:c.649C>T	XP_005252500.1:p.His217Tyr
NM_001002295.2:c.649C>T MANE Select	NP_001002295.1:p.His217Tyr
NM_002051.3:c.649C>T	NP_002042.1:p.His217Tyr