Canonical Allele Identifier: CA911186

Gene: CRYZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.74706447T>C , CM000663.2:g.74706447T>C	GRCh38
NC_000001.10:g.75172131T>C , CM000663.1:g.75172131T>C	GRCh37
NC_000001.9:g.74944719T>C	NCBI36
NG_029880.1:g.31962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340866.10:c.839A>G MANE Select	ENSP00000339399.5:p.Gln280Arg
ENST00000340866.9:c.839A>G	ENSP00000339399.5:p.Gln280Arg
ENST00000370871.7:c.737A>G	ENSP00000359908.3:p.Gln246Arg
ENST00000370872.7:c.428A>G	ENSP00000359909.3:p.Gln143Arg
ENST00000417775.5:c.839A>G	ENSP00000399805.1:p.Gln280Arg
ENST00000492102.1:n.1940A>G
NM_001130042.1:c.839A>G	NP_001123514.1:p.Gln280Arg
NM_001130043.1:c.737A>G	NP_001123515.1:p.Gln246Arg
NM_001134759.1:c.428A>G	NP_001128231.1:p.Gln143Arg
NM_001889.3:c.839A>G	NP_001880.2:p.Gln280Arg
XM_005270491.3:c.428A>G	XP_005270548.1:p.Gln143Arg
XM_011540747.1:c.839A>G	XP_011539049.1:p.Gln280Arg
XM_005270491.4:c.428A>G	XP_005270548.1:p.Gln143Arg
XM_011540747.2:c.839A>G	XP_011539049.1:p.Gln280Arg
XM_017000367.2:c.737A>G	XP_016855856.1:p.Gln246Arg
XM_017000368.1:c.428A>G	XP_016855857.1:p.Gln143Arg
NM_001889.4:c.839A>G MANE Select	NP_001880.2:p.Gln280Arg
NM_001130042.2:c.839A>G	NP_001123514.1:p.Gln280Arg
NM_001130043.2:c.737A>G	NP_001123515.1:p.Gln246Arg
NM_001134759.2:c.428A>G	NP_001128231.1:p.Gln143Arg