Canonical Allele Identifier: CA412852620
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385646T>C (hg19) chrX:g.48527258T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527258T>C , CM000685.2:g.48527258T>C GRCh38
NC_000023.10:g.48385646T>C , CM000685.1:g.48385646T>C GRCh37
NC_000023.9:g.48270590T>C NCBI36
NG_007452.1:g.10483T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.442T>C MANE Select ENSP00000417052.1:p.Phe148Leu
ENST00000651615.1:c.442T>C ENSP00000498524.1:p.Phe148Leu
ENST00000276096.10:n.400T>C
ENST00000446158.5:c.442T>C ENSP00000390031.1:p.Phe148Leu
ENST00000466461.1:n.281T>C
ENST00000495186.5:c.442T>C ENSP00000417052.1:p.Phe148Leu
ENST00000498425.1:n.563T>C
NM_006579.2:c.442T>C NP_006570.1:p.Phe148Leu
NM_006579.3:c.442T>C MANE Select NP_006570.1:p.Phe148Leu
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