Canonical Allele Identifier: CA516015699
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385652C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527264C>T , CM000685.2:g.48527264C>T GRCh38
NC_000023.10:g.48385652C>T , CM000685.1:g.48385652C>T GRCh37
NC_000023.9:g.48270596C>T NCBI36
NG_007452.1:g.10489C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.448C>T MANE Select ENSP00000417052.1:p.Leu150=
ENST00000651615.1:c.448C>T ENSP00000498524.1:p.Leu150=
ENST00000276096.10:n.406C>T
ENST00000446158.5:c.448C>T ENSP00000390031.1:p.Leu150=
ENST00000466461.1:n.287C>T
ENST00000495186.5:c.448C>T ENSP00000417052.1:p.Leu150=
ENST00000498425.1:n.569C>T
NM_006579.2:c.448C>T NP_006570.1:p.Leu150=
NM_006579.3:c.448C>T MANE Select NP_006570.1:p.Leu150=