Canonical Allele Identifier: CA412852916

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48386676A>T (hg19) ; chrX:g.48528288A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48528288A>T , CM000685.2:g.48528288A>T	GRCh38
NC_000023.10:g.48386676A>T , CM000685.1:g.48386676A>T	GRCh37
NC_000023.9:g.48271620A>T	NCBI36
NG_007452.1:g.11513A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.524A>T MANE Select	ENSP00000417052.1:p.Gln175Leu
ENST00000651615.1:c.469+1003A>T	ENSP00000498524.1:n.469+1003A>T
ENST00000276096.10:n.482A>T
ENST00000495186.5:c.524A>T	ENSP00000417052.1:p.Gln175Leu
ENST00000498425.1:n.645A>T
NM_006579.2:c.524A>T	NP_006570.1:p.Gln175Leu
NM_006579.3:c.524A>T MANE Select	NP_006570.1:p.Gln175Leu