Canonical Allele Identifier: CA2399270985
Gene: CRYBB1 HGNC NCBI

Linked Data

dbSNP Id: rs1929030356
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26607844G>A , CM000684.2:g.26607844G>A GRCh38
NC_000022.10:g.27003808G>A , CM000684.1:g.27003808G>A GRCh37
NC_000022.9:g.25333808G>A NCBI36
NG_009826.1:g.15184C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647569.1:n.244+45C>T
ENST00000647684.1:c.432+45C>T MANE Select ENSP00000497249.1:n.432+45C>T
ENST00000215939.2:c.432+45C>T ENSP00000215939.2:n.432+45C>T
NM_001887.3:c.432+45C>T NP_001878.1:n.432+45C>T
XM_011529899.1:c.432+45C>T XP_011528201.1:n.432+45C>T
NM_001887.4:c.432+45C>T MANE Select NP_001878.1:n.432+45C>T
XM_011529899.3:c.432+45C>T XP_011528201.1:n.432+45C>T
Search 100 bp 5'
Search 100 bp 3'