Canonical Allele Identifier: CA375975498

Gene: GATA3

Linked Data

• dbSNP Id: rs2131520462
• gnomAD v4: 10-8073793-A-G
• MyVariant Identifiers: chr10:g.8115756A>G (hg19) ; chr10:g.8073793A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073793A>G , CM000672.2:g.8073793A>G	GRCh38
NC_000010.10:g.8115756A>G , CM000672.1:g.8115756A>G	GRCh37
NC_000010.9:g.8155762A>G	NCBI36
NG_015859.1:g.24090A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000346208.4:c.1102A>G	ENSP00000341619.3:p.Met368Val
ENST00000379328.9:c.1105A>G MANE Select	ENSP00000368632.3:p.Met369Val
ENST00000346208.3:c.1102A>G	ENSP00000341619.3:p.Met368Val
ENST00000379328.7:c.1105A>G	ENSP00000368632.3:p.Met369Val
ENST00000461472.1:n.624A>G
NM_001002295.1:c.1105A>G	NP_001002295.1:p.Met369Val
NM_002051.2:c.1102A>G	NP_002042.1:p.Met368Val
XM_005252442.2:c.1105A>G	XP_005252499.1:p.Met369Val
XM_005252443.3:c.1105A>G	XP_005252500.1:p.Met369Val
XM_005252443.5:c.1105A>G	XP_005252500.1:p.Met369Val
NM_001002295.2:c.1105A>G MANE Select	NP_001002295.1:p.Met369Val
NM_002051.3:c.1102A>G	NP_002042.1:p.Met368Val