Canonical Allele Identifier: CA5404363

Gene: GATA3

Linked Data

• ClinVar Variation Id: 681820
• ClinVar RCV Id: RCV000841786
• dbSNP Id: rs575374217
• ExAC: 10:8100447 T / C
• gnomAD v3: 10-8058484-T-C
• gnomAD v4: 10-8058484-T-C
• MyVariant Identifiers: chr10:g.8100447T>C (hg19) ; chr10:g.8058484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058484T>C , CM000672.2:g.8058484T>C	GRCh38
NC_000010.10:g.8100447T>C , CM000672.1:g.8100447T>C	GRCh37
NC_000010.9:g.8140453T>C	NCBI36
NG_015859.1:g.8781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.421T>C	ENSP00000341619.3:p.Leu141=
ENST00000379328.9:c.421T>C MANE Select	ENSP00000368632.3:p.Leu141=
ENST00000481743.2:c.421T>C	ENSP00000493486.1:p.Leu141=
ENST00000346208.3:c.421T>C	ENSP00000341619.3:p.Leu141=
ENST00000379328.7:c.421T>C	ENSP00000368632.3:p.Leu141=
ENST00000461472.1:n.86T>C
NM_001002295.1:c.421T>C	NP_001002295.1:p.Leu141=
NM_002051.2:c.421T>C	NP_002042.1:p.Leu141=
XM_005252442.2:c.421T>C	XP_005252499.1:p.Leu141=
XM_005252443.3:c.421T>C	XP_005252500.1:p.Leu141=
XM_005252443.5:c.421T>C	XP_005252500.1:p.Leu141=
NM_001002295.2:c.421T>C MANE Select	NP_001002295.1:p.Leu141=
NM_002051.3:c.421T>C	NP_002042.1:p.Leu141=