Canonical Allele Identifier: CA121062

Gene: GATA1

Linked Data

• ClinVar Variation Id: 10423
• ClinVar RCV Id: RCV000011168 ; RCV000144255
• dbSNP Id: rs104894815
• MyVariant Identifiers: chrX:g.48650744G>A (hg19) ; chrX:g.48792337G>A (hg38)
• PubMed: PMID:10700180 ; PMID:20301538

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792337G>A , CM000685.2:g.48792337G>A	GRCh38
NC_000023.10:g.48650744G>A , CM000685.1:g.48650744G>A	GRCh37
NC_000023.9:g.48535688G>A	NCBI36
NG_008846.2:g.10764G>A , LRG_559:g.10764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.364G>A	ENSP00000498550.1:p.Val122Met
ENST00000696450.1:c.613G>A	ENSP00000512637.1:p.Val205Met
ENST00000696451.1:c.364G>A	ENSP00000512638.1:p.Val122Met
ENST00000696452.1:c.364G>A	ENSP00000512639.1:p.Val122Met
ENST00000376670.9:c.613G>A MANE Select	ENSP00000365858.3:p.Val205Met
ENST00000651144.1:c.364G>A	ENSP00000498550.1:p.Val122Met
ENST00000376665.4:c.613G>A	ENSP00000365853.3:p.Val205Met
ENST00000376670.7:c.613G>A	ENSP00000365858.3:p.Val205Met
NM_002049.3:c.613G>A , LRG_559t1:c.613G>A	NP_002040.1:p.Val205Met
XM_011543897.1:c.613G>A	XP_011542199.1:p.Val205Met
XM_011543898.1:c.364G>A	XP_011542200.1:p.Val122Met
XM_011543897.2:c.613G>A	XP_011542199.1:p.Val205Met
XM_011543898.2:c.364G>A	XP_011542200.1:p.Val122Met
XM_024452363.1:c.364G>A	XP_024308131.1:p.Val122Met
NM_002049.4:c.613G>A MANE Select	NP_002040.1:p.Val205Met