Canonical Allele Identifier: CA412852931
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48386679A>T (hg19) chrX:g.48528291A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528291A>T , CM000685.2:g.48528291A>T GRCh38
NC_000023.10:g.48386679A>T , CM000685.1:g.48386679A>T GRCh37
NC_000023.9:g.48271623A>T NCBI36
NG_007452.1:g.11516A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.527A>T MANE Select ENSP00000417052.1:p.His176Leu
ENST00000651615.1:c.469+1006A>T ENSP00000498524.1:n.469+1006A>T
ENST00000276096.10:n.485A>T
ENST00000495186.5:c.527A>T ENSP00000417052.1:p.His176Leu
ENST00000498425.1:n.648A>T
NM_006579.2:c.527A>T NP_006570.1:p.His176Leu
NM_006579.3:c.527A>T MANE Select NP_006570.1:p.His176Leu
Search 100 bp 5'
Search 100 bp 3'