Canonical Allele Identifier: CA121069

Gene: GATA1

Linked Data

• ClinVar Variation Id: 10427
• ClinVar RCV Id: RCV000011172 ; RCV000144259
• dbSNP Id: rs104894808
• MyVariant Identifiers: chrX:g.48650783G>T (hg19) ; chrX:g.48792376G>T (hg38)
• PubMed: PMID:11809723 ; PMID:20301538

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792376G>T , CM000685.2:g.48792376G>T	GRCh38
NC_000023.10:g.48650783G>T , CM000685.1:g.48650783G>T	GRCh37
NC_000023.9:g.48535727G>T	NCBI36
NG_008846.2:g.10803G>T , LRG_559:g.10803G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651144.2:c.403G>T	ENSP00000498550.1:p.Asp135Tyr
ENST00000696450.1:c.652G>T	ENSP00000512637.1:p.Asp218Tyr
ENST00000696451.1:c.403G>T	ENSP00000512638.1:p.Asp135Tyr
ENST00000696452.1:c.403G>T	ENSP00000512639.1:p.Asp135Tyr
ENST00000376670.9:c.652G>T MANE Select	ENSP00000365858.3:p.Asp218Tyr
ENST00000651144.1:c.403G>T	ENSP00000498550.1:p.Asp135Tyr
ENST00000376665.4:c.652G>T	ENSP00000365853.3:p.Asp218Tyr
ENST00000376670.7:c.652G>T	ENSP00000365858.3:p.Asp218Tyr
NM_002049.3:c.652G>T , LRG_559t1:c.652G>T	NP_002040.1:p.Asp218Tyr
XM_011543897.1:c.652G>T	XP_011542199.1:p.Asp218Tyr
XM_011543898.1:c.403G>T	XP_011542200.1:p.Asp135Tyr
XM_011543897.2:c.652G>T	XP_011542199.1:p.Asp218Tyr
XM_011543898.2:c.403G>T	XP_011542200.1:p.Asp135Tyr
XM_024452363.1:c.403G>T	XP_024308131.1:p.Asp135Tyr
NM_002049.4:c.652G>T MANE Select	NP_002040.1:p.Asp218Tyr