Canonical Allele Identifier: CA10403030
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs782609400
ExAC: X:48385629 G / A
gnomAD v2: X-48385629-G-A
gnomAD v3: X-48527241-G-A
gnomAD v4: X-48527241-G-A
MyVariant Identifiers: chrX:g.48385629G>A (hg19) chrX:g.48527241G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527241G>A , CM000685.2:g.48527241G>A GRCh38
NC_000023.10:g.48385629G>A , CM000685.1:g.48385629G>A GRCh37
NC_000023.9:g.48270573G>A NCBI36
NG_007452.1:g.10466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.425G>A MANE Select ENSP00000417052.1:p.Arg142His
ENST00000651615.1:c.425G>A ENSP00000498524.1:p.Arg142His
ENST00000276096.10:n.383G>A
ENST00000414061.1:c.425G>A ENSP00000405832.1:p.Arg142His
ENST00000446158.5:c.425G>A ENSP00000390031.1:p.Arg142His
ENST00000466461.1:n.264G>A
ENST00000495186.5:c.425G>A ENSP00000417052.1:p.Arg142His
ENST00000498425.1:n.546G>A
NM_006579.2:c.425G>A NP_006570.1:p.Arg142His
NM_006579.3:c.425G>A MANE Select NP_006570.1:p.Arg142His
Search 100 bp 5'
Search 100 bp 3'