Canonical Allele Identifier: CA412852948

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48386682G>T (hg19) ; chrX:g.48528294G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48528294G>T , CM000685.2:g.48528294G>T	GRCh38
NC_000023.10:g.48386682G>T , CM000685.1:g.48386682G>T	GRCh37
NC_000023.9:g.48271626G>T	NCBI36
NG_007452.1:g.11519G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.530G>T MANE Select	ENSP00000417052.1:p.Gly177Val
ENST00000651615.1:c.469+1009G>T	ENSP00000498524.1:n.469+1009G>T
ENST00000276096.10:n.488G>T
ENST00000495186.5:c.530G>T	ENSP00000417052.1:p.Gly177Val
ENST00000498425.1:n.651G>T
NM_006579.2:c.530G>T	NP_006570.1:p.Gly177Val
NM_006579.3:c.530G>T MANE Select	NP_006570.1:p.Gly177Val