Canonical Allele Identifier: CA375969309

Gene: GATA3

Linked Data

• gnomAD v4: 10-8058613-C-G
• MyVariant Identifiers: chr10:g.8100576C>G (hg19) ; chr10:g.8058613C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058613C>G , CM000672.2:g.8058613C>G	GRCh38
NC_000010.10:g.8100576C>G , CM000672.1:g.8100576C>G	GRCh37
NC_000010.9:g.8140582C>G	NCBI36
NG_015859.1:g.8910C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.550C>G	ENSP00000341619.3:p.Leu184Val
ENST00000379328.9:c.550C>G MANE Select	ENSP00000368632.3:p.Leu184Val
ENST00000346208.3:c.550C>G	ENSP00000341619.3:p.Leu184Val
ENST00000379328.7:c.550C>G	ENSP00000368632.3:p.Leu184Val
ENST00000461472.1:n.215C>G
NM_001002295.1:c.550C>G	NP_001002295.1:p.Leu184Val
NM_002051.2:c.550C>G	NP_002042.1:p.Leu184Val
XM_005252442.2:c.550C>G	XP_005252499.1:p.Leu184Val
XM_005252443.3:c.550C>G	XP_005252500.1:p.Leu184Val
XM_005252443.5:c.550C>G	XP_005252500.1:p.Leu184Val
NM_001002295.2:c.550C>G MANE Select	NP_001002295.1:p.Leu184Val
NM_002051.3:c.550C>G	NP_002042.1:p.Leu184Val