Canonical Allele Identifier: CA1088343193
Gene: BICRAL HGNC NCBI

Linked Data

dbSNP Id: rs1554274155
gnomAD v3: 6-42763428-G-A
gnomAD v4: 6-42763428-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42763428G>A , CM000668.2:g.42763428G>A GRCh38
NC_000006.11:g.42731166G>A , CM000668.1:g.42731166G>A GRCh37
NC_000006.10:g.42839144G>A NCBI36
NG_054763.1:g.21471G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614467.4:c.-261+16405G>A ENSP00000482211.1:n.-261+16405G>A
XR_926809.1:n.919+3494G>A
XR_926810.1:n.904+3494G>A
XR_926811.1:n.1175+3494G>A
NM_001318819.1:c.-365+16405G>A NP_001305748.1:n.-365+16405G>A
NM_001318819.2:c.-365+16405G>A NP_001305748.1:n.-365+16405G>A