Canonical Allele Identifier: CA997262837
Gene: BRSK1 HGNC NCBI

Linked Data

gnomAD v3: 19-55308389-A-C
gnomAD v4: 19-55308389-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308389A>C , CM000681.2:g.55308389A>C GRCh38
NC_000019.9:g.55819757A>C , CM000681.1:g.55819757A>C GRCh37
NC_000019.8:g.60511569A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000309383.6:c.2090-250A>C MANE Select ENSP00000310649.1:n.2090-250A>C
ENST00000309383.5:c.2090-250A>C ENSP00000310649.1:n.2090-250A>C
ENST00000326848.7:c.1175-250A>C ENSP00000320853.7:n.1175-250A>C
ENST00000590333.5:c.2138-250A>C ENSP00000468190.1:n.2138-250A>C
NM_032430.1:c.2090-250A>C NP_115806.1:n.2090-250A>C
XM_005259327.2:c.1820-250A>C XP_005259384.1:n.1820-250A>C
XM_011527395.1:c.1847-250A>C XP_011525697.1:n.1847-250A>C
XR_430213.2:n.2073-250A>C
XM_005259327.3:c.1820-250A>C XP_005259384.1:n.1820-250A>C
XM_011527395.2:c.1562-250A>C XP_011525697.2:n.1562-250A>C
XM_024451739.1:c.1865-250A>C XP_024307507.1:n.1865-250A>C
XR_430213.4:n.2371-250A>C
NM_032430.2:c.2090-250A>C MANE Select NP_115806.1:n.2090-250A>C
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