Canonical Allele Identifier: CA12332093
Gene: CRYBG1 HGNC NCBI

Linked Data

dbSNP Id: rs6568433
gnomAD v2: 6-106829537-T-C
gnomAD v3: 6-106381662-T-C
gnomAD v4: 6-106381662-T-C
MyVariant Identifiers: chr6:g.106829537T>C (hg19) chr6:g.106381662T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.106381662T>C , CM000668.2:g.106381662T>C GRCh38
NC_000006.11:g.106829537T>C , CM000668.1:g.106829537T>C GRCh37
NC_000006.10:g.106936230T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000633556.3:c.173+20581T>C MANE Select ENSP00000488010.2:n.173+20581T>C
ENST00000633556.1:c.173+20581T>C ENSP00000488010.1:n.173+20581T>C
XM_005266839.2:c.173+20581T>C XP_005266896.1:n.173+20581T>C
XM_005266839.3:c.173+20581T>C XP_005266896.1:n.173+20581T>C
NM_001371242.2:c.173+20581T>C MANE Select NP_001358171.1:n.173+20581T>C
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