Canonical Allele Identifier: CA412852597

Gene: EBP

Linked Data

• gnomAD v4: X-48527246-C-G
• MyVariant Identifiers: chrX:g.48385634C>G (hg19) ; chrX:g.48527246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527246C>G , CM000685.2:g.48527246C>G	GRCh38
NC_000023.10:g.48385634C>G , CM000685.1:g.48385634C>G	GRCh37
NC_000023.9:g.48270578C>G	NCBI36
NG_007452.1:g.10471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.430C>G MANE Select	ENSP00000417052.1:p.His144Asp
ENST00000651615.1:c.430C>G	ENSP00000498524.1:p.His144Asp
ENST00000276096.10:n.388C>G
ENST00000414061.1:c.430C>G	ENSP00000405832.1:p.His144Asp
ENST00000446158.5:c.430C>G	ENSP00000390031.1:p.His144Asp
ENST00000466461.1:n.269C>G
ENST00000495186.5:c.430C>G	ENSP00000417052.1:p.His144Asp
ENST00000498425.1:n.551C>G
NM_006579.2:c.430C>G	NP_006570.1:p.His144Asp
NM_006579.3:c.430C>G MANE Select	NP_006570.1:p.His144Asp