Canonical Allele Identifier: CA10157828
Gene: CRYBB3 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.25207069G>A
GRCh37 chr22:g.25603036G>A
Revel Score:
ENST00000215855 (MANE Select) 0.737
gnomAD v2:
22:25603036 G / A
gnomAD v3:
22:25207069 G / A
gnomAD v4:
chr22-25207069-G-A
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000455 (NFE)
dbSNP:
74315490
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25207069G>A , CM000684.2:g.25207069G>A GRCh38
NC_000022.10:g.25603036G>A , CM000684.1:g.25603036G>A GRCh37
NC_000022.9:g.23933036G>A NCBI36
NG_009828.1:g.12212G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215855.7:c.493G>A MANE Select ENSP00000215855.2:p.Gly165Ser
ENST00000215855.6:c.493G>A ENSP00000215855.2:p.Gly165Ser
ENST00000404334.1:c.*8G>A ENSP00000386123.1:n.*8G>A
NM_004076.4:c.493G>A NP_004067.1:p.Gly165Ser
XM_011529902.1:c.661G>A XP_011528204.1:p.Gly221Ser
XM_011529902.3:c.661G>A XP_011528204.1:p.Gly221Ser
XM_017028599.2:c.*8G>A XP_016884088.1:n.*8G>A
NM_004076.5:c.493G>A MANE Select NP_004067.1:p.Gly165Ser
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