Canonical Allele Identifier: CA516015714
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385654A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527266A>T , CM000685.2:g.48527266A>T GRCh38
NC_000023.10:g.48385654A>T , CM000685.1:g.48385654A>T GRCh37
NC_000023.9:g.48270598A>T NCBI36
NG_007452.1:g.10491A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.450A>T MANE Select ENSP00000417052.1:p.Leu150=
ENST00000651615.1:c.450A>T ENSP00000498524.1:p.Leu150=
ENST00000276096.10:n.408A>T
ENST00000446158.5:c.450A>T ENSP00000390031.1:p.Leu150=
ENST00000466461.1:n.289A>T
ENST00000495186.5:c.450A>T ENSP00000417052.1:p.Leu150=
ENST00000498425.1:n.571A>T
NM_006579.2:c.450A>T NP_006570.1:p.Leu150=
NM_006579.3:c.450A>T MANE Select NP_006570.1:p.Leu150=