Canonical Allele Identifier: CA824788184
Gene: BYSL HGNC NCBI

Linked Data

dbSNP Id: rs1053133
MyVariant Identifiers: chr6:g.41900625C>A (hg19) chr6:g.41932887C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41932887C>A , CM000668.2:g.41932887C>A GRCh38
NC_000006.11:g.41900625C>A , CM000668.1:g.41900625C>A GRCh37
NC_000006.10:g.42008603C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000230340.9:c.*181C>A MANE Select ENSP00000230340.4:n.*181C>A
ENST00000230340.8:c.*181C>A ENSP00000230340.4:n.*181C>A
ENST00000372996.2:c.1190C>A
NM_004053.3:c.*181C>A NP_004044.3:n.*181C>A
XM_011514838.1:c.*181C>A XP_011513140.1:n.*181C>A
NM_004053.4:c.*181C>A MANE Select NP_004044.3:n.*181C>A
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