Canonical Allele Identifier: CA236348
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158551
dbSNP Id: rs141925556

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528275C>T , CM000685.2:g.48528275C>T GRCh38
NC_000023.10:g.48386663C>T , CM000685.1:g.48386663C>T GRCh37
NC_000023.9:g.48271607C>T NCBI36
NG_007452.1:g.11500C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.511C>T MANE Select ENSP00000417052.1:p.Arg171Cys
ENST00000651615.1:c.469+990C>T ENSP00000498524.1:p.=
ENST00000276096.10:n.469C>T
ENST00000495186.5:c.511C>T ENSP00000417052.1:p.Arg171Cys
ENST00000498425.1:n.632C>T
NM_006579.2:c.511C>T NP_006570.1:p.Arg171Cys
NM_006579.3:c.511C>T MANE Select NP_006570.1:p.Arg171Cys