Canonical Allele Identifier: CA516354999

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48382255G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48523867G>T , CM000685.2:g.48523867G>T	GRCh38
NC_000023.10:g.48382255G>T , CM000685.1:g.48382255G>T	GRCh37
NC_000023.9:g.48267199G>T	NCBI36
NG_007452.1:g.7092G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.96G>T MANE Select	ENSP00000417052.1:p.Leu32=
ENST00000651615.1:c.96G>T	ENSP00000498524.1:p.Leu32=
ENST00000276096.10:n.110-56G>T
ENST00000414061.1:c.96G>T	ENSP00000405832.1:p.Leu32=
ENST00000446158.5:c.96G>T	ENSP00000390031.1:p.Leu32=
ENST00000495186.5:c.96G>T	ENSP00000417052.1:p.Leu32=
ENST00000498425.1:n.217G>T
NM_006579.2:c.96G>T	NP_006570.1:p.Leu32=
NM_006579.3:c.96G>T MANE Select	NP_006570.1:p.Leu32=