Canonical Allele Identifier: CA10165353
Gene: CRYBB1 HGNC NCBI

Linked Data

dbSNP Id: rs763915800
ExAC: 22:26995464 G / T
gnomAD v4: 22-26599500-G-T
MyVariant Identifiers: chr22:g.26995464G>T (hg19) chr22:g.26599500G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599500G>T , CM000684.2:g.26599500G>T GRCh38
NC_000022.10:g.26995464G>T , CM000684.1:g.26995464G>T GRCh37
NC_000022.9:g.25325464G>T NCBI36
NG_009826.1:g.23528C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647684.1:c.749C>A MANE Select ENSP00000497249.1:p.Pro250His
ENST00000215939.2:c.749C>A ENSP00000215939.2:p.Pro250His
NM_001887.3:c.749C>A NP_001878.1:p.Pro250His
XM_011529899.1:c.749C>A XP_011528201.1:p.Pro250His
NM_001887.4:c.749C>A MANE Select NP_001878.1:p.Pro250His
XM_011529899.3:c.749C>A XP_011528201.1:p.Pro250His
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