Canonical Allele Identifier: CA412852610

Gene: EBP

Linked Data

• dbSNP Id: rs2061782137
• gnomAD v4: X-48527252-C-T
• MyVariant Identifiers: chrX:g.48385640C>T (hg19) ; chrX:g.48527252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527252C>T , CM000685.2:g.48527252C>T	GRCh38
NC_000023.10:g.48385640C>T , CM000685.1:g.48385640C>T	GRCh37
NC_000023.9:g.48270584C>T	NCBI36
NG_007452.1:g.10477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.436C>T MANE Select	ENSP00000417052.1:p.Leu146Phe
ENST00000651615.1:c.436C>T	ENSP00000498524.1:p.Leu146Phe
ENST00000276096.10:n.394C>T
ENST00000414061.1:c.436C>T
ENST00000446158.5:c.436C>T	ENSP00000390031.1:p.Leu146Phe
ENST00000466461.1:n.275C>T
ENST00000495186.5:c.436C>T	ENSP00000417052.1:p.Leu146Phe
ENST00000498425.1:n.557C>T
NM_006579.2:c.436C>T	NP_006570.1:p.Leu146Phe
NM_006579.3:c.436C>T MANE Select	NP_006570.1:p.Leu146Phe