Canonical Allele Identifier: CA641500230

Gene: EBP

Linked Data

• dbSNP Id: rs1556977626
• gnomAD v2: X-48385759-T-A
• gnomAD v4: X-48527371-T-A
• MyVariant Identifiers: chrX:g.48385759T>A (hg19) ; chrX:g.48527371T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527371T>A , CM000685.2:g.48527371T>A	GRCh38
NC_000023.10:g.48385759T>A , CM000685.1:g.48385759T>A	GRCh37
NC_000023.9:g.48270703T>A	NCBI36
NG_007452.1:g.10596T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+86T>A MANE Select	ENSP00000417052.1:n.469+86T>A
ENST00000651615.1:c.469+86T>A	ENSP00000498524.1:n.469+86T>A
ENST00000276096.10:n.427+86T>A
ENST00000446158.5:c.469+86T>A	ENSP00000390031.1:n.469+86T>A
ENST00000466461.1:n.394T>A
ENST00000495186.5:c.469+86T>A	ENSP00000417052.1:n.469+86T>A
ENST00000498425.1:n.590+86T>A
NM_006579.2:c.469+86T>A	NP_006570.1:n.469+86T>A
NM_006579.3:c.469+86T>A MANE Select	NP_006570.1:n.469+86T>A