Canonical Allele Identifier: CA412852953

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48386684G>T (hg19) ; chrX:g.48528296G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48528296G>T , CM000685.2:g.48528296G>T	GRCh38
NC_000023.10:g.48386684G>T , CM000685.1:g.48386684G>T	GRCh37
NC_000023.9:g.48271628G>T	NCBI36
NG_007452.1:g.11521G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.532G>T MANE Select	ENSP00000417052.1:p.Glu178Ter
ENST00000651615.1:c.469+1011G>T	ENSP00000498524.1:n.469+1011G>T
ENST00000276096.10:n.490G>T
ENST00000495186.5:c.532G>T	ENSP00000417052.1:p.Glu178Ter
ENST00000498425.1:n.653G>T
NM_006579.2:c.532G>T	NP_006570.1:p.Glu178Ter
NM_006579.3:c.532G>T MANE Select	NP_006570.1:p.Glu178Ter