Canonical Allele Identifier: CA5404364

Gene: GATA3

Linked Data

• dbSNP Id: rs545553575
• ExAC: 10:8100449 G / T
• gnomAD v2: 10-8100449-G-T
• gnomAD v3: 10-8058486-G-T
• gnomAD v4: 10-8058486-G-T
• MyVariant Identifiers: chr10:g.8100449G>T (hg19) ; chr10:g.8058486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058486G>T , CM000672.2:g.8058486G>T	GRCh38
NC_000010.10:g.8100449G>T , CM000672.1:g.8100449G>T	GRCh37
NC_000010.9:g.8140455G>T	NCBI36
NG_015859.1:g.8783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.423G>T	ENSP00000341619.3:p.Leu141Phe
ENST00000379328.9:c.423G>T MANE Select	ENSP00000368632.3:p.Leu141Phe
ENST00000481743.2:c.423G>T	ENSP00000493486.1:p.Leu141Phe
ENST00000346208.3:c.423G>T	ENSP00000341619.3:p.Leu141Phe
ENST00000379328.7:c.423G>T	ENSP00000368632.3:p.Leu141Phe
ENST00000461472.1:n.88G>T
NM_001002295.1:c.423G>T	NP_001002295.1:p.Leu141Phe
NM_002051.2:c.423G>T	NP_002042.1:p.Leu141Phe
XM_005252442.2:c.423G>T	XP_005252499.1:p.Leu141Phe
XM_005252443.3:c.423G>T	XP_005252500.1:p.Leu141Phe
XM_005252443.5:c.423G>T	XP_005252500.1:p.Leu141Phe
NM_001002295.2:c.423G>T MANE Select	NP_001002295.1:p.Leu141Phe
NM_002051.3:c.423G>T	NP_002042.1:p.Leu141Phe