Canonical Allele Identifier: CA329072300

Gene: EBP

Linked Data

• dbSNP Id: rs1052713148
• gnomAD v3: X-48523778-A-C
• gnomAD v4: X-48523778-A-C
• MyVariant Identifiers: chrX:g.48382166A>C (hg19) ; chrX:g.48523778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48523778A>C , CM000685.2:g.48523778A>C	GRCh38
NC_000023.10:g.48382166A>C , CM000685.1:g.48382166A>C	GRCh37
NC_000023.9:g.48267110A>C	NCBI36
NG_007452.1:g.7003A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.7A>C MANE Select	ENSP00000417052.1:p.Thr3Pro
ENST00000651615.1:c.7A>C	ENSP00000498524.1:p.Thr3Pro
ENST00000276096.10:n.110-145A>C
ENST00000414061.1:c.7A>C	ENSP00000405832.1:p.Thr3Pro
ENST00000446158.5:c.7A>C	ENSP00000390031.1:p.Thr3Pro
ENST00000495186.5:c.7A>C	ENSP00000417052.1:p.Thr3Pro
ENST00000498425.1:n.128A>C
NM_006579.2:c.7A>C	NP_006570.1:p.Thr3Pro
NM_006579.3:c.7A>C MANE Select	NP_006570.1:p.Thr3Pro