Canonical Allele Identifier: CA412852621

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48385646T>G (hg19) ; chrX:g.48527258T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527258T>G , CM000685.2:g.48527258T>G	GRCh38
NC_000023.10:g.48385646T>G , CM000685.1:g.48385646T>G	GRCh37
NC_000023.9:g.48270590T>G	NCBI36
NG_007452.1:g.10483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.442T>G MANE Select	ENSP00000417052.1:p.Phe148Val
ENST00000651615.1:c.442T>G	ENSP00000498524.1:p.Phe148Val
ENST00000276096.10:n.400T>G
ENST00000446158.5:c.442T>G	ENSP00000390031.1:p.Phe148Val
ENST00000466461.1:n.281T>G
ENST00000495186.5:c.442T>G	ENSP00000417052.1:p.Phe148Val
ENST00000498425.1:n.563T>G
NM_006579.2:c.442T>G	NP_006570.1:p.Phe148Val
NM_006579.3:c.442T>G MANE Select	NP_006570.1:p.Phe148Val