Canonical Allele Identifier: CA2615964336
Community Standard Title: NC_000011.10:g.111911973G>T
Gene: CRYAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.111911973G>T , CM000673.2:g.111911973G>T GRCh38
NC_000011.9:g.111782697G>T , CM000673.1:g.111782697G>T GRCh37
NC_000011.8:g.111287907G>T NCBI36
NG_009824.2:g.16750C>A
NG_033080.1:g.4238G>T
NG_009824.3:g.16750C>A
NG_033080.2:g.4238G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001289807.1:c.-198-51C>A NP_001276736.1:n.-198-51C>A
NM_001289808.1:c.-249C>A NP_001276737.1:n.-249C>A
NM_001368245.1:c.-198-51C>A NP_001355174.1:n.-198-51C>A
NM_001885.2:c.-198-51C>A NP_001876.1:n.-198-51C>A
NM_001885.3:c.-198-51C>A NP_001876.1:n.-198-51C>A
ENST00000227251.7:c.-148C>A ENSP00000227251.3:n.-148C>A
ENST00000526180.5:c.-249C>A ENSP00000436051.1:n.-249C>A
ENST00000526180.6:c.-224-25C>A ENSP00000436051.1:n.-224-25C>A
ENST00000527899.5:c.-198-51C>A ENSP00000436089.1:n.-198-51C>A
ENST00000527899.6:c.-198-51C>A ENSP00000436089.2:n.-198-51C>A
ENST00000527950.5:c.-198-51C>A ENSP00000437149.1:n.-198-51C>A
ENST00000528628.5:c.-198-51C>A ENSP00000432182.1:n.-198-51C>A
ENST00000529647.5:c.-198-51C>A ENSP00000431754.1:n.-198-51C>A
ENST00000531198.5:c.-198-51C>A ENSP00000434247.1:n.-198-51C>A
ENST00000533475.5:c.-198-51C>A ENSP00000433560.1:n.-198-51C>A
ENST00000533475.6:c.-198-51C>A ENSP00000433560.1:n.-198-51C>A
ENST00000533879.1:c.-198-51C>A ENSP00000435931.1:n.-198-51C>A
ENST00000533879.2:c.-198-51C>A ENSP00000435931.2:n.-198-51C>A
ENST00000533971.2:c.-198-51C>A ENSP00000434269.1:n.-198-51C>A
ENST00000616970.4:c.-198-51C>A ENSP00000483554.1:n.-198-51C>A
ENST00000616970.5:c.-198-51C>A ENSP00000483554.1:n.-198-51C>A
ENST00000651164.1:c.-159C>A ENSP00000498735.1:n.-159C>A
ENST00000652223.1:n.115-51C>A
ENST00000652606.1:n.47-51C>A
XM_011542608.1:c.-198-51C>A XP_011540910.1:n.-198-51C>A