Canonical Allele Identifier: CA911429
Gene: CRYZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.74723167T>A , CM000663.2:g.74723167T>A GRCh38
NC_000001.10:g.75188851T>A , CM000663.1:g.75188851T>A GRCh37
NC_000001.9:g.74961439T>A NCBI36
NG_029880.1:g.15242A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340866.10:c.215A>T MANE Select ENSP00000339399.5:p.Asp72Val
ENST00000340866.9:c.215A>T ENSP00000339399.5:p.Asp72Val
ENST00000370870.5:c.215A>T ENSP00000359907.1:p.Asp72Val
ENST00000370871.7:c.215A>T ENSP00000359908.3:p.Asp72Val
ENST00000370872.7:c.-33A>T ENSP00000359909.3:n.-33A>T
ENST00000417775.5:c.215A>T ENSP00000399805.1:p.Asp72Val
ENST00000441120.1:c.215A>T ENSP00000404289.1:p.Asp72Val
NM_001130042.1:c.215A>T NP_001123514.1:p.Asp72Val
NM_001130043.1:c.215A>T NP_001123515.1:p.Asp72Val
NM_001134759.1:c.-33A>T NP_001128231.1:n.-33A>T
NM_001889.3:c.215A>T NP_001880.2:p.Asp72Val
XM_005270491.3:c.-33A>T XP_005270548.1:n.-33A>T
XM_011540747.1:c.215A>T XP_011539049.1:p.Asp72Val
XM_005270491.4:c.-33A>T XP_005270548.1:n.-33A>T
XM_011540747.2:c.215A>T XP_011539049.1:p.Asp72Val
XM_017000367.2:c.215A>T XP_016855856.1:p.Asp72Val
XM_017000368.1:c.-33A>T XP_016855857.1:n.-33A>T
NM_001889.4:c.215A>T MANE Select NP_001880.2:p.Asp72Val
NM_001130042.2:c.215A>T NP_001123514.1:p.Asp72Val
NM_001130043.2:c.215A>T NP_001123515.1:p.Asp72Val
NM_001134759.2:c.-33A>T NP_001128231.1:n.-33A>T