Canonical Allele Identifier: CA411027388
Gene: CRYBB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.26995467T>C (hg19) chr22:g.26599503T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599503T>C , CM000684.2:g.26599503T>C GRCh38
NC_000022.10:g.26995467T>C , CM000684.1:g.26995467T>C GRCh37
NC_000022.9:g.25325467T>C NCBI36
NG_009826.1:g.23525A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.746A>G MANE Select ENSP00000497249.1:p.Glu249Gly
ENST00000215939.2:c.746A>G ENSP00000215939.2:p.Glu249Gly
NM_001887.3:c.746A>G NP_001878.1:p.Glu249Gly
XM_011529899.1:c.746A>G XP_011528201.1:p.Glu249Gly
NM_001887.4:c.746A>G MANE Select NP_001878.1:p.Glu249Gly
XM_011529899.3:c.746A>G XP_011528201.1:p.Glu249Gly
Search 100 bp 5'
Search 100 bp 3'