Canonical Allele Identifier: CA138178245
Gene: BICRAL HGNC NCBI

Linked Data

dbSNP Id: rs545541958
gnomAD v3: 6-42763312-G-T
gnomAD v4: 6-42763312-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42763312G>T , CM000668.2:g.42763312G>T GRCh38
NC_000006.11:g.42731050G>T , CM000668.1:g.42731050G>T GRCh37
NC_000006.10:g.42839028G>T NCBI36
NG_054763.1:g.21355G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000614467.4:c.-261+16289G>T ENSP00000482211.1:n.-261+16289G>T
XR_926809.1:n.919+3378G>T
XR_926810.1:n.904+3378G>T
XR_926811.1:n.1175+3378G>T
NM_001318819.1:c.-365+16289G>T NP_001305748.1:n.-365+16289G>T
NM_001318819.2:c.-365+16289G>T NP_001305748.1:n.-365+16289G>T