Canonical Allele Identifier: CA412870656

Gene: GATA1

Linked Data

• ClinVar Variation Id: 627352
• ClinVar RCV Id: RCV000852178 ; RCV002245660
• dbSNP Id: rs104894808
• MyVariant Identifiers: chrX:g.48650783G>A (hg19) ; chrX:g.48792376G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000651144.2:c.403G>A	ENSP00000498550.1:p.Asp135Asn
ENST00000696450.1:c.652G>A	ENSP00000512637.1:p.Asp218Asn
ENST00000696451.1:c.403G>A	ENSP00000512638.1:p.Asp135Asn
ENST00000696452.1:c.403G>A	ENSP00000512639.1:p.Asp135Asn
ENST00000376670.9:c.652G>A MANE Select	ENSP00000365858.3:p.Asp218Asn
ENST00000651144.1:c.403G>A	ENSP00000498550.1:p.Asp135Asn
ENST00000376665.4:c.652G>A	ENSP00000365853.3:p.Asp218Asn
ENST00000376670.7:c.652G>A	ENSP00000365858.3:p.Asp218Asn
NM_002049.3:c.652G>A , LRG_559t1:c.652G>A	NP_002040.1:p.Asp218Asn
XM_011543897.1:c.652G>A	XP_011542199.1:p.Asp218Asn
XM_011543898.1:c.403G>A	XP_011542200.1:p.Asp135Asn
XM_011543897.2:c.652G>A	XP_011542199.1:p.Asp218Asn
XM_011543898.2:c.403G>A	XP_011542200.1:p.Asp135Asn
XM_024452363.1:c.403G>A	XP_024308131.1:p.Asp135Asn
NM_002049.4:c.652G>A MANE Select	NP_002040.1:p.Asp218Asn