Canonical Allele Identifier: CA10403041
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs202027120
gnomAD v2: X-48385723-G-T
gnomAD v3: X-48527335-G-T
gnomAD v4: X-48527335-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527335G>T , CM000685.2:g.48527335G>T GRCh38
NC_000023.10:g.48385723G>T , CM000685.1:g.48385723G>T GRCh37
NC_000023.9:g.48270667G>T NCBI36
NG_007452.1:g.10560G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+50G>T MANE Select ENSP00000417052.1:n.469+50G>T
ENST00000651615.1:c.469+50G>T ENSP00000498524.1:n.469+50G>T
ENST00000276096.10:n.427+50G>T
ENST00000446158.5:c.469+50G>T ENSP00000390031.1:n.469+50G>T
ENST00000466461.1:n.358G>T
ENST00000495186.5:c.469+50G>T ENSP00000417052.1:n.469+50G>T
ENST00000498425.1:n.590+50G>T
NM_006579.2:c.469+50G>T NP_006570.1:n.469+50G>T
NM_006579.3:c.469+50G>T MANE Select NP_006570.1:n.469+50G>T