Canonical Allele Identifier: CA9672683

Gene: BRSK1

Linked Data

• dbSNP Id: rs776225509
• ExAC: 19:55820016 G / A
• gnomAD v2: 19-55820016-G-A
• gnomAD v3: 19-55308648-G-A
• gnomAD v4: 19-55308648-G-A
• MyVariant Identifiers: chr19:g.55820016G>A (hg19) ; chr19:g.55308648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308648G>A , CM000681.2:g.55308648G>A	GRCh38
NC_000019.9:g.55820016G>A , CM000681.1:g.55820016G>A	GRCh37
NC_000019.8:g.60511828G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2099G>A MANE Select	ENSP00000310649.1:p.Arg700His
ENST00000309383.5:c.2099G>A	ENSP00000310649.1:p.Arg700His
ENST00000326848.7:c.1184G>A	ENSP00000320853.7:p.Arg395His
ENST00000590333.5:c.2147G>A	ENSP00000468190.1:p.Arg716His
NM_032430.1:c.2099G>A	NP_115806.1:p.Arg700His
XM_005259327.2:c.1829G>A	XP_005259384.1:p.Arg610His
XM_011527395.1:c.1856G>A	XP_011525697.1:p.Arg619His
XR_430213.2:n.2082G>A
XM_005259327.3:c.1829G>A	XP_005259384.1:p.Arg610His
XM_011527395.2:c.1571G>A	XP_011525697.2:p.Arg524His
XM_024451739.1:c.1874G>A	XP_024307507.1:p.Arg625His
XR_430213.4:n.2380G>A
NM_032430.2:c.2099G>A MANE Select	NP_115806.1:p.Arg700His