Canonical Allele Identifier: CA411030690
Gene: CRYBB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26607936T>G , CM000684.2:g.26607936T>G GRCh38
NC_000022.10:g.27003900T>G , CM000684.1:g.27003900T>G GRCh37
NC_000022.9:g.25333900T>G NCBI36
NG_009826.1:g.15092A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647569.1:n.197A>C
ENST00000647684.1:c.385A>C MANE Select ENSP00000497249.1:p.Ser129Arg
ENST00000215939.2:c.385A>C ENSP00000215939.2:p.Ser129Arg
NM_001887.3:c.385A>C NP_001878.1:p.Ser129Arg
XM_011529899.1:c.385A>C XP_011528201.1:p.Ser129Arg
NM_001887.4:c.385A>C MANE Select NP_001878.1:p.Ser129Arg
XM_011529899.3:c.385A>C XP_011528201.1:p.Ser129Arg