Canonical Allele Identifier: CA516354947
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48382168C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523780C>T , CM000685.2:g.48523780C>T GRCh38
NC_000023.10:g.48382168C>T , CM000685.1:g.48382168C>T GRCh37
NC_000023.9:g.48267112C>T NCBI36
NG_007452.1:g.7005C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.9C>T MANE Select ENSP00000417052.1:p.Thr3=
ENST00000651615.1:c.9C>T ENSP00000498524.1:p.Thr3=
ENST00000276096.10:n.110-143C>T
ENST00000414061.1:c.9C>T ENSP00000405832.1:p.Thr3=
ENST00000446158.5:c.9C>T ENSP00000390031.1:p.Thr3=
ENST00000495186.5:c.9C>T ENSP00000417052.1:p.Thr3=
ENST00000498425.1:n.130C>T
NM_006579.2:c.9C>T NP_006570.1:p.Thr3=
NM_006579.3:c.9C>T MANE Select NP_006570.1:p.Thr3=