Canonical Allele Identifier: CA411027327
Gene: CRYBB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26599493C>A , CM000684.2:g.26599493C>A GRCh38
NC_000022.10:g.26995457C>A , CM000684.1:g.26995457C>A GRCh37
NC_000022.9:g.25325457C>A NCBI36
NG_009826.1:g.23535G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647684.1:c.756G>T MANE Select ENSP00000497249.1:p.Lys252Asn
ENST00000215939.2:c.756G>T ENSP00000215939.2:p.Lys252Asn
NM_001887.3:c.756G>T NP_001878.1:p.Lys252Asn
XM_011529899.1:c.756G>T XP_011528201.1:p.Lys252Asn
NM_001887.4:c.756G>T MANE Select NP_001878.1:p.Lys252Asn
XM_011529899.3:c.756G>T XP_011528201.1:p.Lys252Asn