Canonical Allele Identifier: CA2547050345

Gene: BRSK1

Linked Data

• gnomAD v4: 19-55308750-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308750G>A , CM000681.2:g.55308750G>A	GRCh38
NC_000019.9:g.55820118G>A , CM000681.1:g.55820118G>A	GRCh37
NC_000019.8:g.60511930G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2179+22G>A MANE Select	ENSP00000310649.1:n.2179+22G>A
ENST00000309383.5:c.2179+22G>A	ENSP00000310649.1:n.2179+22G>A
ENST00000326848.7:c.1264+22G>A	ENSP00000320853.7:n.1264+22G>A
ENST00000590333.5:c.2227+22G>A	ENSP00000468190.1:n.2227+22G>A
NM_032430.1:c.2179+22G>A	NP_115806.1:n.2179+22G>A
XM_005259327.2:c.1909+22G>A	XP_005259384.1:n.1909+22G>A
XM_011527395.1:c.1936+22G>A	XP_011525697.1:n.1936+22G>A
XR_430213.2:n.2162+22G>A
XM_005259327.3:c.1909+22G>A	XP_005259384.1:n.1909+22G>A
XM_011527395.2:c.1651+22G>A	XP_011525697.2:n.1651+22G>A
XM_024451739.1:c.1954+22G>A	XP_024307507.1:n.1954+22G>A
XR_430213.4:n.2460+22G>A
NM_032430.2:c.2179+22G>A MANE Select	NP_115806.1:n.2179+22G>A