Canonical Allele Identifier: CA516015689
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385651T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527263T>A , CM000685.2:g.48527263T>A GRCh38
NC_000023.10:g.48385651T>A , CM000685.1:g.48385651T>A GRCh37
NC_000023.9:g.48270595T>A NCBI36
NG_007452.1:g.10488T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.447T>A MANE Select ENSP00000417052.1:p.Ile149=
ENST00000651615.1:c.447T>A ENSP00000498524.1:p.Ile149=
ENST00000276096.10:n.405T>A
ENST00000446158.5:c.447T>A ENSP00000390031.1:p.Ile149=
ENST00000466461.1:n.286T>A
ENST00000495186.5:c.447T>A ENSP00000417052.1:p.Ile149=
ENST00000498425.1:n.568T>A
NM_006579.2:c.447T>A NP_006570.1:p.Ile149=
NM_006579.3:c.447T>A MANE Select NP_006570.1:p.Ile149=