Canonical Allele Identifier: CA638788577
Gene: CRYBB1 HGNC NCBI

Linked Data

dbSNP Id: rs1249569917
gnomAD v2: 22-27003831-C-A
gnomAD v4: 22-26607867-C-A
MyVariant Identifiers: chr22:g.27003831C>A (hg19) chr22:g.26607867C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26607867C>A , CM000684.2:g.26607867C>A GRCh38
NC_000022.10:g.27003831C>A , CM000684.1:g.27003831C>A GRCh37
NC_000022.9:g.25333831C>A NCBI36
NG_009826.1:g.15161G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647569.1:n.244+22G>T
ENST00000647684.1:c.432+22G>T MANE Select ENSP00000497249.1:n.432+22G>T
ENST00000215939.2:c.432+22G>T ENSP00000215939.2:n.432+22G>T
NM_001887.3:c.432+22G>T NP_001878.1:n.432+22G>T
XM_011529899.1:c.432+22G>T XP_011528201.1:n.432+22G>T
NM_001887.4:c.432+22G>T MANE Select NP_001878.1:n.432+22G>T
XM_011529899.3:c.432+22G>T XP_011528201.1:n.432+22G>T
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