Canonical Allele Identifier: CA411030742
Gene: CRYBB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.27003924A>G (hg19) chr22:g.26607960A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26607960A>G , CM000684.2:g.26607960A>G GRCh38
NC_000022.10:g.27003924A>G , CM000684.1:g.27003924A>G GRCh37
NC_000022.9:g.25333924A>G NCBI36
NG_009826.1:g.15068T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647569.1:n.173T>C
ENST00000647684.1:c.361T>C MANE Select ENSP00000497249.1:p.Tyr121His
ENST00000215939.2:c.361T>C ENSP00000215939.2:p.Tyr121His
NM_001887.3:c.361T>C NP_001878.1:p.Tyr121His
XM_011529899.1:c.361T>C XP_011528201.1:p.Tyr121His
NM_001887.4:c.361T>C MANE Select NP_001878.1:p.Tyr121His
XM_011529899.3:c.361T>C XP_011528201.1:p.Tyr121His
Search 100 bp 5'
Search 100 bp 3'