Canonical Allele Identifier: CA412852644
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385657G>C (hg19) chrX:g.48527269G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527269G>C , CM000685.2:g.48527269G>C GRCh38
NC_000023.10:g.48385657G>C , CM000685.1:g.48385657G>C GRCh37
NC_000023.9:g.48270601G>C NCBI36
NG_007452.1:g.10494G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.453G>C MANE Select ENSP00000417052.1:p.Gln151His
ENST00000651615.1:c.453G>C ENSP00000498524.1:p.Gln151His
ENST00000276096.10:n.411G>C
ENST00000446158.5:c.453G>C ENSP00000390031.1:p.Gln151His
ENST00000466461.1:n.292G>C
ENST00000495186.5:c.453G>C ENSP00000417052.1:p.Gln151His
ENST00000498425.1:n.574G>C
NM_006579.2:c.453G>C NP_006570.1:p.Gln151His
NM_006579.3:c.453G>C MANE Select NP_006570.1:p.Gln151His
Search 100 bp 5'
Search 100 bp 3'