Canonical Allele Identifier: CA516015692
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48385651T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527263T>C , CM000685.2:g.48527263T>C GRCh38
NC_000023.10:g.48385651T>C , CM000685.1:g.48385651T>C GRCh37
NC_000023.9:g.48270595T>C NCBI36
NG_007452.1:g.10488T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.447T>C MANE Select ENSP00000417052.1:p.Ile149=
ENST00000651615.1:c.447T>C ENSP00000498524.1:p.Ile149=
ENST00000276096.10:n.405T>C
ENST00000446158.5:c.447T>C ENSP00000390031.1:p.Ile149=
ENST00000466461.1:n.286T>C
ENST00000495186.5:c.447T>C ENSP00000417052.1:p.Ile149=
ENST00000498425.1:n.568T>C
NM_006579.2:c.447T>C NP_006570.1:p.Ile149=
NM_006579.3:c.447T>C MANE Select NP_006570.1:p.Ile149=
Search 100 bp 5'
Search 100 bp 3'