Canonical Allele Identifier: CA516015655
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385645C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527257C>G , CM000685.2:g.48527257C>G GRCh38
NC_000023.10:g.48385645C>G , CM000685.1:g.48385645C>G GRCh37
NC_000023.9:g.48270589C>G NCBI36
NG_007452.1:g.10482C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.441C>G MANE Select ENSP00000417052.1:p.Arg147=
ENST00000651615.1:c.441C>G ENSP00000498524.1:p.Arg147=
ENST00000276096.10:n.399C>G
ENST00000446158.5:c.441C>G ENSP00000390031.1:p.Arg147=
ENST00000466461.1:n.280C>G
ENST00000495186.5:c.441C>G ENSP00000417052.1:p.Arg147=
ENST00000498425.1:n.562C>G
NM_006579.2:c.441C>G NP_006570.1:p.Arg147=
NM_006579.3:c.441C>G MANE Select NP_006570.1:p.Arg147=