Canonical Allele Identifier: CA516355000
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48382258T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523870T>A , CM000685.2:g.48523870T>A GRCh38
NC_000023.10:g.48382258T>A , CM000685.1:g.48382258T>A GRCh37
NC_000023.9:g.48267202T>A NCBI36
NG_007452.1:g.7095T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.99T>A MANE Select ENSP00000417052.1:p.Ala33=
ENST00000651615.1:c.99T>A ENSP00000498524.1:p.Ala33=
ENST00000276096.10:n.110-53T>A
ENST00000414061.1:c.99T>A ENSP00000405832.1:p.Ala33=
ENST00000446158.5:c.99T>A ENSP00000390031.1:p.Ala33=
ENST00000495186.5:c.99T>A ENSP00000417052.1:p.Ala33=
ENST00000498425.1:n.220T>A
NM_006579.2:c.99T>A NP_006570.1:p.Ala33=
NM_006579.3:c.99T>A MANE Select NP_006570.1:p.Ala33=
Search 100 bp 5'
Search 100 bp 3'