Canonical Allele Identifier: CA2343356035
Gene: BRSK1 HGNC NCBI

Linked Data

dbSNP Id: rs2088718096

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308857G>A , CM000681.2:g.55308857G>A GRCh38
NC_000019.9:g.55820225G>A , CM000681.1:g.55820225G>A GRCh37
NC_000019.8:g.60512037G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309383.6:c.2179+129G>A MANE Select ENSP00000310649.1:n.2179+129G>A
ENST00000309383.5:c.2179+129G>A ENSP00000310649.1:n.2179+129G>A
ENST00000326848.7:c.1264+129G>A ENSP00000320853.7:n.1264+129G>A
ENST00000590333.5:c.2227+129G>A ENSP00000468190.1:n.2227+129G>A
NM_032430.1:c.2179+129G>A NP_115806.1:n.2179+129G>A
XM_005259327.2:c.1909+129G>A XP_005259384.1:n.1909+129G>A
XM_011527395.1:c.1936+129G>A XP_011525697.1:n.1936+129G>A
XR_430213.2:n.2162+129G>A
XM_005259327.3:c.1909+129G>A XP_005259384.1:n.1909+129G>A
XM_011527395.2:c.1651+129G>A XP_011525697.2:n.1651+129G>A
XM_024451739.1:c.1954+129G>A XP_024307507.1:n.1954+129G>A
XR_430213.4:n.2460+129G>A
NM_032430.2:c.2179+129G>A MANE Select NP_115806.1:n.2179+129G>A