Canonical Allele Identifier: CA412852624
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385647T>G (hg19) chrX:g.48527259T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527259T>G , CM000685.2:g.48527259T>G GRCh38
NC_000023.10:g.48385647T>G , CM000685.1:g.48385647T>G GRCh37
NC_000023.9:g.48270591T>G NCBI36
NG_007452.1:g.10484T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.443T>G MANE Select ENSP00000417052.1:p.Phe148Cys
ENST00000651615.1:c.443T>G ENSP00000498524.1:p.Phe148Cys
ENST00000276096.10:n.401T>G
ENST00000446158.5:c.443T>G ENSP00000390031.1:p.Phe148Cys
ENST00000466461.1:n.282T>G
ENST00000495186.5:c.443T>G ENSP00000417052.1:p.Phe148Cys
ENST00000498425.1:n.564T>G
NM_006579.2:c.443T>G NP_006570.1:p.Phe148Cys
NM_006579.3:c.443T>G MANE Select NP_006570.1:p.Phe148Cys
Search 100 bp 5'
Search 100 bp 3'