Canonical Allele Identifier: CA10403025
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1019011
ClinVar RCV Id: RCV001318387 RCV002543749 RCV003953658
dbSNP Id: rs148792902
ExAC: X:48385545 G / T
gnomAD v2: X-48385545-G-T
gnomAD v3: X-48527157-G-T
gnomAD v4: X-48527157-G-T
MyVariant Identifiers: chrX:g.48385545G>T (hg19) chrX:g.48527157G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527157G>T , CM000685.2:g.48527157G>T GRCh38
NC_000023.10:g.48385545G>T , CM000685.1:g.48385545G>T GRCh37
NC_000023.9:g.48270489G>T NCBI36
NG_007452.1:g.10382G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.341G>T MANE Select ENSP00000417052.1:p.Gly114Val
ENST00000651615.1:c.341G>T ENSP00000498524.1:p.Gly114Val
ENST00000276096.10:n.299G>T
ENST00000414061.1:c.341G>T ENSP00000405832.1:p.Gly114Val
ENST00000446158.5:c.341G>T ENSP00000390031.1:p.Gly114Val
ENST00000466461.1:n.180G>T
ENST00000495186.5:c.341G>T ENSP00000417052.1:p.Gly114Val
ENST00000498425.1:n.462G>T
NM_006579.2:c.341G>T NP_006570.1:p.Gly114Val
NM_006579.3:c.341G>T MANE Select NP_006570.1:p.Gly114Val
Search 100 bp 5'
Search 100 bp 3'