Canonical Allele Identifier: CA997262851

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308405-G-C
• gnomAD v4: 19-55308405-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308405G>C , CM000681.2:g.55308405G>C	GRCh38
NC_000019.9:g.55819773G>C , CM000681.1:g.55819773G>C	GRCh37
NC_000019.8:g.60511585G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309383.6:c.2090-234G>C MANE Select	ENSP00000310649.1:n.2090-234G>C
ENST00000309383.5:c.2090-234G>C	ENSP00000310649.1:n.2090-234G>C
ENST00000326848.7:c.1175-234G>C	ENSP00000320853.7:n.1175-234G>C
ENST00000590333.5:c.2138-234G>C	ENSP00000468190.1:n.2138-234G>C
NM_032430.1:c.2090-234G>C	NP_115806.1:n.2090-234G>C
XM_005259327.2:c.1820-234G>C	XP_005259384.1:n.1820-234G>C
XM_011527395.1:c.1847-234G>C	XP_011525697.1:n.1847-234G>C
XR_430213.2:n.2073-234G>C
XM_005259327.3:c.1820-234G>C	XP_005259384.1:n.1820-234G>C
XM_011527395.2:c.1562-234G>C	XP_011525697.2:n.1562-234G>C
XM_024451739.1:c.1865-234G>C	XP_024307507.1:n.1865-234G>C
XR_430213.4:n.2371-234G>C
NM_032430.2:c.2090-234G>C MANE Select	NP_115806.1:n.2090-234G>C