Canonical Allele Identifier: CA375975857

Gene: GATA3

Linked Data

• dbSNP Id: rs1486763472
• gnomAD v4: 10-8073934-A-G
• MyVariant Identifiers: chr10:g.8115897A>G (hg19) ; chr10:g.8073934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073934A>G , CM000672.2:g.8073934A>G	GRCh38
NC_000010.10:g.8115897A>G , CM000672.1:g.8115897A>G	GRCh37
NC_000010.9:g.8155903A>G	NCBI36
NG_015859.1:g.24231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1243A>G	ENSP00000341619.3:p.Met415Val
ENST00000379328.9:c.1246A>G MANE Select	ENSP00000368632.3:p.Met416Val
ENST00000346208.3:c.1243A>G	ENSP00000341619.3:p.Met415Val
ENST00000379328.7:c.1246A>G	ENSP00000368632.3:p.Met416Val
ENST00000461472.1:n.765A>G
NM_001002295.1:c.1246A>G	NP_001002295.1:p.Met416Val
NM_002051.2:c.1243A>G	NP_002042.1:p.Met415Val
XM_005252442.2:c.1246A>G	XP_005252499.1:p.Met416Val
XM_005252443.3:c.1246A>G	XP_005252500.1:p.Met416Val
XM_005252443.5:c.1246A>G	XP_005252500.1:p.Met416Val
NM_001002295.2:c.1246A>G MANE Select	NP_001002295.1:p.Met416Val
NM_002051.3:c.1243A>G	NP_002042.1:p.Met415Val