Canonical Allele Identifier: CA412852645

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48385657G>T (hg19) ; chrX:g.48527269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527269G>T , CM000685.2:g.48527269G>T	GRCh38
NC_000023.10:g.48385657G>T , CM000685.1:g.48385657G>T	GRCh37
NC_000023.9:g.48270601G>T	NCBI36
NG_007452.1:g.10494G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.453G>T MANE Select	ENSP00000417052.1:p.Gln151His
ENST00000651615.1:c.453G>T	ENSP00000498524.1:p.Gln151His
ENST00000276096.10:n.411G>T
ENST00000446158.5:c.453G>T	ENSP00000390031.1:p.Gln151His
ENST00000466461.1:n.292G>T
ENST00000495186.5:c.453G>T	ENSP00000417052.1:p.Gln151His
ENST00000498425.1:n.574G>T
NM_006579.2:c.453G>T	NP_006570.1:p.Gln151His
NM_006579.3:c.453G>T MANE Select	NP_006570.1:p.Gln151His