Canonical Allele Identifier: CA412852629
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385650T>A (hg19) chrX:g.48527262T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527262T>A , CM000685.2:g.48527262T>A GRCh38
NC_000023.10:g.48385650T>A , CM000685.1:g.48385650T>A GRCh37
NC_000023.9:g.48270594T>A NCBI36
NG_007452.1:g.10487T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.446T>A MANE Select ENSP00000417052.1:p.Ile149Asn
ENST00000651615.1:c.446T>A ENSP00000498524.1:p.Ile149Asn
ENST00000276096.10:n.404T>A
ENST00000446158.5:c.446T>A ENSP00000390031.1:p.Ile149Asn
ENST00000466461.1:n.285T>A
ENST00000495186.5:c.446T>A ENSP00000417052.1:p.Ile149Asn
ENST00000498425.1:n.567T>A
NM_006579.2:c.446T>A NP_006570.1:p.Ile149Asn
NM_006579.3:c.446T>A MANE Select NP_006570.1:p.Ile149Asn
Search 100 bp 5'
Search 100 bp 3'