Canonical Allele Identifier: CA5404575

Gene: GATA3

Linked Data

• ClinVar Variation Id: 1712274
• ClinVar RCV Id: RCV002294548 ; RCV003097844
• dbSNP Id: rs769298101
• ExAC: 10:8115907 C / T
• gnomAD v2: 10-8115907-C-T
• gnomAD v3: 10-8073944-C-T
• gnomAD v4: 10-8073944-C-T
• MyVariant Identifiers: chr10:g.8115907C>T (hg19) ; chr10:g.8073944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073944C>T , CM000672.2:g.8073944C>T	GRCh38
NC_000010.10:g.8115907C>T , CM000672.1:g.8115907C>T	GRCh37
NC_000010.9:g.8155913C>T	NCBI36
NG_015859.1:g.24241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1253C>T	ENSP00000341619.3:p.Thr418Met
ENST00000379328.9:c.1256C>T MANE Select	ENSP00000368632.3:p.Thr419Met
ENST00000346208.3:c.1253C>T	ENSP00000341619.3:p.Thr418Met
ENST00000379328.7:c.1256C>T	ENSP00000368632.3:p.Thr419Met
ENST00000461472.1:n.775C>T
NM_001002295.1:c.1256C>T	NP_001002295.1:p.Thr419Met
NM_002051.2:c.1253C>T	NP_002042.1:p.Thr418Met
XM_005252442.2:c.1256C>T	XP_005252499.1:p.Thr419Met
XM_005252443.3:c.1256C>T	XP_005252500.1:p.Thr419Met
XM_005252443.5:c.1256C>T	XP_005252500.1:p.Thr419Met
NM_001002295.2:c.1256C>T MANE Select	NP_001002295.1:p.Thr419Met
NM_002051.3:c.1253C>T	NP_002042.1:p.Thr418Met