Canonical Allele Identifier: CA412852331

Gene: EBP

Linked Data

• ClinVar Variation Id: 1302551
• ClinVar RCV Id: RCV001756225
• dbSNP Id: rs2147156475
• MyVariant Identifiers: chrX:g.48385565A>G (hg19) ; chrX:g.48527177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527177A>G , CM000685.2:g.48527177A>G	GRCh38
NC_000023.10:g.48385565A>G , CM000685.1:g.48385565A>G	GRCh37
NC_000023.9:g.48270509A>G	NCBI36
NG_007452.1:g.10402A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.361A>G MANE Select	ENSP00000417052.1:p.Met121Val
ENST00000651615.1:c.361A>G	ENSP00000498524.1:p.Met121Val
ENST00000276096.10:n.319A>G
ENST00000414061.1:c.361A>G	ENSP00000405832.1:p.Met121Val
ENST00000446158.5:c.361A>G	ENSP00000390031.1:p.Met121Val
ENST00000466461.1:n.200A>G
ENST00000495186.5:c.361A>G	ENSP00000417052.1:p.Met121Val
ENST00000498425.1:n.482A>G
NM_006579.2:c.361A>G	NP_006570.1:p.Met121Val
NM_006579.3:c.361A>G MANE Select	NP_006570.1:p.Met121Val