Canonical Allele Identifier: CA121062
Gene: GATA1 HGNC NCBI

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
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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
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