Canonical Allele Identifier: CA345934
Gene: GATA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156265
ClinVar RCV Id: RCV000144252 RCV000754842 RCV001382885
dbSNP Id: rs587776451
COSMIC: COSM87869
MyVariant Identifiers: chrX:g.48649518T>C (hg19) chrX:g.48791111T>C (hg38)
PubMed: PMID:20301538 PMID:24453067
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791111T>C , CM000685.2:g.48791111T>C GRCh38
NC_000023.10:g.48649518T>C , CM000685.1:g.48649518T>C GRCh37
NC_000023.9:g.48534462T>C NCBI36
NG_008846.2:g.9538T>C , LRG_559:g.9538T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651144.2:c.-29-733T>C ENSP00000498550.1:n.-29-733T>C
ENST00000696450.1:c.2T>C ENSP00000512637.1:p.Met1Thr
ENST00000696451.1:c.-29-733T>C ENSP00000512638.1:n.-29-733T>C
ENST00000696452.1:c.-29-733T>C ENSP00000512639.1:n.-29-733T>C
ENST00000376670.9:c.2T>C MANE Select ENSP00000365858.3:p.Met1Thr
ENST00000651144.1:c.-29-733T>C ENSP00000498550.1:n.-29-733T>C
ENST00000376665.4:c.2T>C ENSP00000365853.3:p.Met1Thr
ENST00000376670.7:c.2T>C ENSP00000365858.3:p.Met1Thr
NM_002049.3:c.2T>C , LRG_559t1:c.2T>C NP_002040.1:p.Met1Thr
XM_011543897.1:c.2T>C XP_011542199.1:p.Met1Thr
XM_011543898.1:c.-29-733T>C XP_011542200.1:n.-29-733T>C
XM_011543897.2:c.2T>C XP_011542199.1:p.Met1Thr
XM_011543898.2:c.-29-733T>C XP_011542200.1:n.-29-733T>C
XM_024452363.1:c.-29-733T>C XP_024308131.1:n.-29-733T>C
NM_002049.4:c.2T>C MANE Select NP_002040.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'