Canonical Allele Identifier: CA412850649
Gene: EBP HGNC NCBI

Linked Data

COSMIC: COSM4982353
MyVariant Identifiers: chrX:g.48382162G>C (hg19) chrX:g.48523774G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523774G>C , CM000685.2:g.48523774G>C GRCh38
NC_000023.10:g.48382162G>C , CM000685.1:g.48382162G>C GRCh37
NC_000023.9:g.48267106G>C NCBI36
NG_007452.1:g.6999G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.3G>C MANE Select ENSP00000417052.1:p.Met1Ile
ENST00000651615.1:c.3G>C ENSP00000498524.1:p.Met1Ile
ENST00000276096.10:n.110-149G>C
ENST00000414061.1:c.3G>C ENSP00000405832.1:p.Met1Ile
ENST00000446158.5:c.3G>C ENSP00000390031.1:p.Met1Ile
ENST00000495186.5:c.3G>C ENSP00000417052.1:p.Met1Ile
ENST00000498425.1:n.124G>C
NM_006579.2:c.3G>C NP_006570.1:p.Met1Ile
NM_006579.3:c.3G>C MANE Select NP_006570.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'