Canonical Allele Identifier: CA411034954
Gene: CRYBB1 HGNC NCBI
CRYBA4 HGNC NCBI

Linked Data

dbSNP Id: rs747901309

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26616283C>A , CM000684.2:g.26616283C>A GRCh38
NC_000022.10:g.27012247C>A , CM000684.1:g.27012247C>A GRCh37
NC_000022.9:g.25342247C>A NCBI36
NG_009826.1:g.6745G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.37G>T (CRYBB1) MANE Select ENSP00000497249.1:p.Val13Leu
ENST00000215939.2:c.37G>T (CRYBB1) ENSP00000215939.2:p.Val13Leu
NM_001887.3:c.37G>T (CRYBB1) NP_001878.1:p.Val13Leu
XM_006724140.2:c.4-6302C>A (CRYBA4) XP_006724203.1:n.4-6302C>A
XM_011529898.1:c.24-5625C>A (CRYBA4) XP_011528200.1:n.24-5625C>A
XM_011529899.1:c.37G>T (CRYBB1) XP_011528201.1:p.Val13Leu
NM_001887.4:c.37G>T (CRYBB1) MANE Select NP_001878.1:p.Val13Leu
XM_006724140.3:c.4-6302C>A (CRYBA4) XP_006724203.1:n.4-6302C>A
XM_011529899.3:c.37G>T (CRYBB1) XP_011528201.1:p.Val13Leu