Canonical Allele Identifier: CA641500082
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs1556976977
gnomAD v2: X-48382101-T-C
gnomAD v4: X-48523713-T-C
MyVariant Identifiers: chrX:g.48382101T>C (hg19) chrX:g.48523713T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523713T>C , CM000685.2:g.48523713T>C GRCh38
NC_000023.10:g.48382101T>C , CM000685.1:g.48382101T>C GRCh37
NC_000023.9:g.48267045T>C NCBI36
NG_007452.1:g.6938T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.-59T>C MANE Select ENSP00000417052.1:n.-59T>C
ENST00000651615.1:c.-59T>C ENSP00000498524.1:n.-59T>C
ENST00000276096.10:n.110-210T>C
ENST00000414061.1:c.-59T>C ENSP00000405832.1:n.-59T>C
ENST00000446158.5:c.-59T>C ENSP00000390031.1:n.-59T>C
ENST00000495186.5:c.-59T>C ENSP00000417052.1:n.-59T>C
ENST00000498425.1:n.104-41T>C
NM_006579.2:c.-59T>C NP_006570.1:n.-59T>C
NM_006579.3:c.-59T>C MANE Select NP_006570.1:n.-59T>C
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