Canonical Allele Identifier: CA2587277934
Gene: BRSK1 HGNC NCBI

Linked Data

gnomAD v4: 19-55308502-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55308502G>A , CM000681.2:g.55308502G>A GRCh38
NC_000019.9:g.55819870G>A , CM000681.1:g.55819870G>A GRCh37
NC_000019.8:g.60511682G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000309383.6:c.2090-137G>A MANE Select ENSP00000310649.1:n.2090-137G>A
ENST00000309383.5:c.2090-137G>A ENSP00000310649.1:n.2090-137G>A
ENST00000326848.7:c.1175-137G>A ENSP00000320853.7:n.1175-137G>A
ENST00000590333.5:c.2138-137G>A ENSP00000468190.1:n.2138-137G>A
NM_032430.1:c.2090-137G>A NP_115806.1:n.2090-137G>A
XM_005259327.2:c.1820-137G>A XP_005259384.1:n.1820-137G>A
XM_011527395.1:c.1847-137G>A XP_011525697.1:n.1847-137G>A
XR_430213.2:n.2073-137G>A
XM_005259327.3:c.1820-137G>A XP_005259384.1:n.1820-137G>A
XM_011527395.2:c.1562-137G>A XP_011525697.2:n.1562-137G>A
XM_024451739.1:c.1865-137G>A XP_024307507.1:n.1865-137G>A
XR_430213.4:n.2371-137G>A
NM_032430.2:c.2090-137G>A MANE Select NP_115806.1:n.2090-137G>A
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