Canonical Allele Identifier: CA310135096

Gene: BRSK1

Linked Data

• dbSNP Id: rs944052713
• gnomAD v2: 19-55819949-A-T
• gnomAD v3: 19-55308581-A-T
• gnomAD v4: 19-55308581-A-T
• MyVariant Identifiers: chr19:g.55819949A>T (hg19) ; chr19:g.55308581A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308581A>T , CM000681.2:g.55308581A>T	GRCh38
NC_000019.9:g.55819949A>T , CM000681.1:g.55819949A>T	GRCh37
NC_000019.8:g.60511761A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-58A>T MANE Select	ENSP00000310649.1:n.2090-58A>T
ENST00000309383.5:c.2090-58A>T	ENSP00000310649.1:n.2090-58A>T
ENST00000326848.7:c.1175-58A>T	ENSP00000320853.7:n.1175-58A>T
ENST00000590333.5:c.2138-58A>T	ENSP00000468190.1:n.2138-58A>T
NM_032430.1:c.2090-58A>T	NP_115806.1:n.2090-58A>T
XM_005259327.2:c.1820-58A>T	XP_005259384.1:n.1820-58A>T
XM_011527395.1:c.1847-58A>T	XP_011525697.1:n.1847-58A>T
XR_430213.2:n.2073-58A>T
XM_005259327.3:c.1820-58A>T	XP_005259384.1:n.1820-58A>T
XM_011527395.2:c.1562-58A>T	XP_011525697.2:n.1562-58A>T
XM_024451739.1:c.1865-58A>T	XP_024307507.1:n.1865-58A>T
XR_430213.4:n.2371-58A>T
NM_032430.2:c.2090-58A>T MANE Select	NP_115806.1:n.2090-58A>T