Canonical Allele Identifier: CA412852921
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48386677G>C (hg19) chrX:g.48528289G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528289G>C , CM000685.2:g.48528289G>C GRCh38
NC_000023.10:g.48386677G>C , CM000685.1:g.48386677G>C GRCh37
NC_000023.9:g.48271621G>C NCBI36
NG_007452.1:g.11514G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.525G>C MANE Select ENSP00000417052.1:p.Gln175His
ENST00000651615.1:c.469+1004G>C ENSP00000498524.1:n.469+1004G>C
ENST00000276096.10:n.483G>C
ENST00000495186.5:c.525G>C ENSP00000417052.1:p.Gln175His
ENST00000498425.1:n.646G>C
NM_006579.2:c.525G>C NP_006570.1:p.Gln175His
NM_006579.3:c.525G>C MANE Select NP_006570.1:p.Gln175His
Search 100 bp 5'
Search 100 bp 3'