Canonical Allele Identifier: CA2577674467
Gene: CRYBB1 HGNC NCBI
CRYBA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26616322T>C , CM000684.2:g.26616322T>C GRCh38
NC_000022.10:g.27012286T>C , CM000684.1:g.27012286T>C GRCh37
NC_000022.9:g.25342286T>C NCBI36
NG_009826.1:g.6706A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647684.1:c.-3A>G (CRYBB1) MANE Select ENSP00000497249.1:n.-3A>G
ENST00000215939.2:c.-3A>G (CRYBB1) ENSP00000215939.2:n.-3A>G
NM_001887.3:c.-3A>G (CRYBB1) NP_001878.1:n.-3A>G
XM_006724140.2:c.4-6263T>C (CRYBA4) XP_006724203.1:n.4-6263T>C
XM_011529898.1:c.24-5586T>C (CRYBA4) XP_011528200.1:n.24-5586T>C
XM_011529899.1:c.-3A>G (CRYBB1) XP_011528201.1:n.-3A>G
NM_001887.4:c.-3A>G (CRYBB1) MANE Select NP_001878.1:n.-3A>G
XM_006724140.3:c.4-6263T>C (CRYBA4) XP_006724203.1:n.4-6263T>C
XM_011529899.3:c.-3A>G (CRYBB1) XP_011528201.1:n.-3A>G