Canonical Allele Identifier: CA413398565
Gene: ZXDA HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.57909321T>C
GRCh37 chrX:g.57935755T>C
Revel Score:
ENST00000358697 (MANE Select) 0.216
gnomAD v2:
X:57935755 T / C
gnomAD v4:
chrX-57909321-T-C
Joint Max Group AF 0.00003153 (NFE)
Exomes Max Group AF 0.00003353 (NFE)
ClinVar RCV:
RCV004166433
ClinVar Variation:
2320307
dbSNP:
1318854890
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.57909321T>C , CM000685.2:g.57909321T>C GRCh38
NC_000023.10:g.57935755T>C , CM000685.1:g.57935755T>C GRCh37
NC_000023.9:g.57952480T>C NCBI36
NG_015974.1:g.6313A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000358697.6:c.1100A>G MANE Select ENSP00000351530.4:p.Glu367Gly
ENST00000358697.5:c.1100A>G ENSP00000351530.4:p.Glu367Gly
NM_007156.4:c.1100A>G NP_009087.1:p.Glu367Gly
NM_007156.5:c.1100A>G MANE Select NP_009087.1:p.Glu367Gly
Search 100 bp 5'
Search 100 bp 3'