Canonical Allele Identifier: CA5404408

Gene: GATA3

Linked Data

• dbSNP Id: rs751641141
• ExAC: 10:8100625 A / C
• gnomAD v2: 10-8100625-A-C
• gnomAD v4: 10-8058662-A-C
• MyVariant Identifiers: chr10:g.8100625A>C (hg19) ; chr10:g.8058662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058662A>C , CM000672.2:g.8058662A>C	GRCh38
NC_000010.10:g.8100625A>C , CM000672.1:g.8100625A>C	GRCh37
NC_000010.9:g.8140631A>C	NCBI36
NG_015859.1:g.8959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.599A>C	ENSP00000341619.3:p.His200Pro
ENST00000379328.9:c.599A>C MANE Select	ENSP00000368632.3:p.His200Pro
ENST00000346208.3:c.599A>C	ENSP00000341619.3:p.His200Pro
ENST00000379328.7:c.599A>C	ENSP00000368632.3:p.His200Pro
ENST00000461472.1:n.264A>C
NM_001002295.1:c.599A>C	NP_001002295.1:p.His200Pro
NM_002051.2:c.599A>C	NP_002042.1:p.His200Pro
XM_005252442.2:c.599A>C	XP_005252499.1:p.His200Pro
XM_005252443.3:c.599A>C	XP_005252500.1:p.His200Pro
XM_005252443.5:c.599A>C	XP_005252500.1:p.His200Pro
NM_001002295.2:c.599A>C MANE Select	NP_001002295.1:p.His200Pro
NM_002051.3:c.599A>C	NP_002042.1:p.His200Pro