Canonical Allele Identifier: CA412852635
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385653T>A (hg19) chrX:g.48527265T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527265T>A , CM000685.2:g.48527265T>A GRCh38
NC_000023.10:g.48385653T>A , CM000685.1:g.48385653T>A GRCh37
NC_000023.9:g.48270597T>A NCBI36
NG_007452.1:g.10490T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.449T>A MANE Select ENSP00000417052.1:p.Leu150Gln
ENST00000651615.1:c.449T>A ENSP00000498524.1:p.Leu150Gln
ENST00000276096.10:n.407T>A
ENST00000446158.5:c.449T>A ENSP00000390031.1:p.Leu150Gln
ENST00000466461.1:n.288T>A
ENST00000495186.5:c.449T>A ENSP00000417052.1:p.Leu150Gln
ENST00000498425.1:n.570T>A
NM_006579.2:c.449T>A NP_006570.1:p.Leu150Gln
NM_006579.3:c.449T>A MANE Select NP_006570.1:p.Leu150Gln
Search 100 bp 5'
Search 100 bp 3'