Canonical Allele Identifier: CA375975934

Gene: GATA3

Linked Data

• dbSNP Id: rs2131522663
• COSMIC: COSM5050360
• MyVariant Identifiers: chr10:g.8115934G>T (hg19) ; chr10:g.8073971G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073971G>T , CM000672.2:g.8073971G>T	GRCh38
NC_000010.10:g.8115934G>T , CM000672.1:g.8115934G>T	GRCh37
NC_000010.9:g.8155940G>T	NCBI36
NG_015859.1:g.24268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1280G>T	ENSP00000341619.3:p.Ser427Ile
ENST00000379328.9:c.1283G>T MANE Select	ENSP00000368632.3:p.Ser428Ile
ENST00000346208.3:c.1280G>T	ENSP00000341619.3:p.Ser427Ile
ENST00000379328.7:c.1283G>T	ENSP00000368632.3:p.Ser428Ile
ENST00000461472.1:n.802G>T
NM_001002295.1:c.1283G>T	NP_001002295.1:p.Ser428Ile
NM_002051.2:c.1280G>T	NP_002042.1:p.Ser427Ile
XM_005252442.2:c.1283G>T	XP_005252499.1:p.Ser428Ile
XM_005252443.3:c.1283G>T	XP_005252500.1:p.Ser428Ile
XM_005252443.5:c.1283G>T	XP_005252500.1:p.Ser428Ile
NM_001002295.2:c.1283G>T MANE Select	NP_001002295.1:p.Ser428Ile
NM_002051.3:c.1280G>T	NP_002042.1:p.Ser427Ile