Canonical Allele Identifier: CA10404535
Gene: GATA1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.48791203G>A
GRCh37 chrX:g.48649610G>A
Revel Score:
ENST00000376670 (MANE Select) 0.180
ENST00000376665 0.180
gnomAD v2:
X:48649610 G / A
gnomAD v3:
X:48791203 G / A
gnomAD v4:
chrX-48791203-G-A
Joint Max Group AF 0.00007877 (NFE)
Genomes Max Group AF 0.00003702 (NFE)
Exomes Max Group AF 0.00007795 (NFE)
ClinVar Allele:
471610
ClinVar RCV:
RCV000533431
RCV000766096
RCV003133317
ClinVar Variation:
465135
dbSNP:
782698349
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791203G>A , CM000685.2:g.48791203G>A GRCh38
NC_000023.10:g.48649610G>A , CM000685.1:g.48649610G>A GRCh37
NC_000023.9:g.48534554G>A NCBI36
NG_008846.2:g.9630G>A , LRG_559:g.9630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.-29-641G>A ENSP00000498550.1:n.-29-641G>A
ENST00000696450.1:c.94G>A ENSP00000512637.1:p.Val32Ile
ENST00000696451.1:c.-29-641G>A ENSP00000512638.1:n.-29-641G>A
ENST00000696452.1:c.-29-641G>A ENSP00000512639.1:n.-29-641G>A
ENST00000376670.9:c.94G>A MANE Select ENSP00000365858.3:p.Val32Ile
ENST00000651144.1:c.-29-641G>A ENSP00000498550.1:n.-29-641G>A
ENST00000376665.4:c.94G>A ENSP00000365853.3:p.Val32Ile
ENST00000376670.7:c.94G>A ENSP00000365858.3:p.Val32Ile
NM_002049.3:c.94G>A , LRG_559t1:c.94G>A NP_002040.1:p.Val32Ile
XM_011543897.1:c.94G>A XP_011542199.1:p.Val32Ile
XM_011543898.1:c.-29-641G>A XP_011542200.1:n.-29-641G>A
XM_011543897.2:c.94G>A XP_011542199.1:p.Val32Ile
XM_011543898.2:c.-29-641G>A XP_011542200.1:n.-29-641G>A
XM_024452363.1:c.-29-641G>A XP_024308131.1:n.-29-641G>A
NM_002049.4:c.94G>A MANE Select NP_002040.1:p.Val32Ile
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