Canonical Allele Identifier: CA382596838
Community Standard Title: NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)
Gene: CRYAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111908966T>C , CM000673.2:g.111908966T>C GRCh38
NC_000011.9:g.111779690T>C , CM000673.1:g.111779690T>C GRCh37
NC_000011.8:g.111284900T>C NCBI36
NG_009824.2:g.19757A>G
NG_033080.1:g.1231T>C
NG_009824.3:g.19757A>G
NG_033080.2:g.1231T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001289808.2:c.326A>G MANE Select NP_001276737.1:p.Asp109Gly
ENST00000650687.2:c.326A>G MANE Select ENSP00000499082.1:p.Asp109Gly
NM_001289807.1:c.326A>G NP_001276736.1:p.Asp109Gly
NM_001289808.1:c.326A>G NP_001276737.1:p.Asp109Gly
NM_001330379.1:c.125A>G NP_001317308.1:p.Asp42Gly
NM_001368245.1:c.326A>G NP_001355174.1:p.Asp109Gly
NM_001368246.1:c.125A>G NP_001355175.1:p.Asp42Gly
NM_001885.2:c.326A>G NP_001876.1:p.Asp109Gly
NM_001885.3:c.326A>G NP_001876.1:p.Asp109Gly
ENST00000227251.7:c.326A>G ENSP00000227251.3:p.Asp109Gly
ENST00000524660.1:c.117A>G
ENST00000525823.1:c.125A>G ENSP00000435411.1:p.Asp42Gly
ENST00000526167.4:c.125A>G ENSP00000434793.1:p.Asp42Gly
ENST00000526167.5:c.125A>G ENSP00000434793.1:p.Asp42Gly
ENST00000526180.5:c.326A>G ENSP00000436051.1:p.Asp109Gly
ENST00000526180.6:c.326A>G ENSP00000436051.1:p.Asp109Gly
ENST00000527899.5:c.326A>G ENSP00000436089.1:p.Asp109Gly
ENST00000527899.6:c.326A>G ENSP00000436089.2:p.Asp109Gly
ENST00000527950.5:c.326A>G ENSP00000437149.1:p.Asp109Gly
ENST00000528961.5:c.125A>G ENSP00000435960.1:p.Asp42Gly
ENST00000528961.6:c.125A>G ENSP00000435960.1:p.Asp42Gly
ENST00000529647.5:c.326A>G ENSP00000431754.1:p.Asp109Gly
ENST00000531198.5:c.326A>G ENSP00000434247.1:p.Asp109Gly
ENST00000533280.5:c.125A>G ENSP00000435046.1:p.Asp42Gly
ENST00000533280.6:c.125A>G ENSP00000435046.1:p.Asp42Gly
ENST00000533475.5:c.326A>G ENSP00000433560.1:p.Asp109Gly
ENST00000533475.6:c.326A>G ENSP00000433560.1:p.Asp109Gly
ENST00000533879.2:c.326A>G ENSP00000435931.2:p.Asp109Gly
ENST00000533971.2:c.*1217A>G ENSP00000434269.1:n.*1217A>G
ENST00000616970.4:c.326A>G ENSP00000483554.1:p.Asp109Gly
ENST00000616970.5:c.326A>G ENSP00000483554.1:p.Asp109Gly
ENST00000651164.1:c.326A>G ENSP00000498735.1:p.Asp109Gly
ENST00000651650.1:c.125A>G ENSP00000498749.1:p.Asp42Gly
ENST00000652223.1:n.3071A>G
ENST00000652606.1:n.1644A>G
XM_011542608.1:c.326A>G XP_011540910.1:p.Asp109Gly
XM_011542609.1:c.125A>G XP_011540911.1:p.Asp42Gly