Canonical Allele Identifier: CA10431381
Gene: ZXDA HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.57908227T>C
GRCh37 chrX:g.57934661T>C
Revel Score:
ENST00000358697 (MANE Select) 0.058
gnomAD v2:
X:57934661 T / C
gnomAD v3:
X:57908227 T / C
gnomAD v4:
chrX-57908227-T-C
Joint Max Group AF 0.00123962 (AFR)
Genomes Max Group AF 0.00079437 (AFR)
Exomes Max Group AF 0.00154376 (AFR)
ClinVar RCV:
RCV004186576
ClinVar Variation:
2346130
dbSNP:
145345434
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.57908227T>C , CM000685.2:g.57908227T>C GRCh38
NC_000023.10:g.57934661T>C , CM000685.1:g.57934661T>C GRCh37
NC_000023.9:g.57951386T>C NCBI36
NG_015974.1:g.7407A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358697.6:c.2194A>G MANE Select ENSP00000351530.4:p.Thr732Ala
ENST00000358697.5:c.2194A>G ENSP00000351530.4:p.Thr732Ala
NM_007156.4:c.2194A>G NP_009087.1:p.Thr732Ala
NM_007156.5:c.2194A>G MANE Select NP_009087.1:p.Thr732Ala
Search 100 bp 5'
Search 100 bp 3'