Canonical Allele Identifier: CA516015674
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385648C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527260C>T , CM000685.2:g.48527260C>T GRCh38
NC_000023.10:g.48385648C>T , CM000685.1:g.48385648C>T GRCh37
NC_000023.9:g.48270592C>T NCBI36
NG_007452.1:g.10485C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.444C>T MANE Select ENSP00000417052.1:p.Phe148=
ENST00000651615.1:c.444C>T ENSP00000498524.1:p.Phe148=
ENST00000276096.10:n.402C>T
ENST00000446158.5:c.444C>T ENSP00000390031.1:p.Phe148=
ENST00000466461.1:n.283C>T
ENST00000495186.5:c.444C>T ENSP00000417052.1:p.Phe148=
ENST00000498425.1:n.565C>T
NM_006579.2:c.444C>T NP_006570.1:p.Phe148=
NM_006579.3:c.444C>T MANE Select NP_006570.1:p.Phe148=