Canonical Allele Identifier: CA138178319
Gene: BICRAL HGNC NCBI

Linked Data

dbSNP Id: rs772815302
gnomAD v3: 6-42763419-A-C
gnomAD v4: 6-42763419-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42763419A>C , CM000668.2:g.42763419A>C GRCh38
NC_000006.11:g.42731157A>C , CM000668.1:g.42731157A>C GRCh37
NC_000006.10:g.42839135A>C NCBI36
NG_054763.1:g.21462A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614467.4:c.-261+16396A>C ENSP00000482211.1:n.-261+16396A>C
XR_926809.1:n.919+3485A>C
XR_926810.1:n.904+3485A>C
XR_926811.1:n.1175+3485A>C
NM_001318819.1:c.-365+16396A>C NP_001305748.1:n.-365+16396A>C
NM_001318819.2:c.-365+16396A>C NP_001305748.1:n.-365+16396A>C