Canonical Allele Identifier: CA10431488
Gene: ZXDA HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.57909283G>T
GRCh37 chrX:g.57935717G>T
Revel Score:
ENST00000358697 (MANE Select) 0.421
gnomAD v2:
X:57935717 G / T
gnomAD v3:
X:57909283 G / T
gnomAD v4:
chrX-57909283-G-T
Joint Max Group AF 0.00018225 (NFE)
Genomes Max Group AF 0.00008723 (NFE)
Exomes Max Group AF 0.00018327 (NFE)
ClinVar RCV:
RCV004490481
ClinVar Variation:
3199648
dbSNP:
200858834
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.57909283G>T , CM000685.2:g.57909283G>T GRCh38
NC_000023.10:g.57935717G>T , CM000685.1:g.57935717G>T GRCh37
NC_000023.9:g.57952442G>T NCBI36
NG_015974.1:g.6351C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358697.6:c.1138C>A MANE Select ENSP00000351530.4:p.Arg380Ser
ENST00000358697.5:c.1138C>A ENSP00000351530.4:p.Arg380Ser
NM_007156.4:c.1138C>A NP_009087.1:p.Arg380Ser
NM_007156.5:c.1138C>A MANE Select NP_009087.1:p.Arg380Ser
Search 100 bp 5'
Search 100 bp 3'