Canonical Allele Identifier: CA1335314467
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232535143G= , CM000664.2:g.232535143G= GRCh38
NC_000002.11:g.233399853G= , CM000664.1:g.233399853G= GRCh37
NC_000002.10:g.233108097G= NCBI36
NG_008028.1:g.13932G=
NG_012954.1:g.417G=
NG_012954.2:g.452G=

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.1385G= MANE Select ENSP00000258385.3:p.Trp462=
ENST00000258385.7:c.1385G= ENSP00000258385.3:p.Trp462=
ENST00000441621.6:c.*567G= ENSP00000408819.2:n.*567G=
ENST00000446616.1:c.*1026G= ENSP00000410801.1:n.*1026G=
ENST00000543200.5:c.1340G= ENSP00000438380.1:p.Trp447=
NM_000751.2:c.1385G= NP_000742.1:p.Trp462=
NM_001256657.1:c.1340G= NP_001243586.1:p.Trp447=
NM_001311195.1:c.803G= NP_001298124.1:p.Trp268=
NM_001311196.1:c.1082G= NP_001298125.1:p.Trp361=
NR_046333.1:c.-4294966166G=
NR_046334.1:c.-4294965887G=
XM_011510524.1:c.1004G= XP_011508826.1:p.Trp335=
XM_011510524.2:c.1004G= XP_011508826.1:p.Trp335=
NM_000751.3:c.1385G= MANE Select NP_000742.1:p.Trp462=
NM_001311195.2:c.803G= NP_001298124.1:p.Trp268=
NM_001311196.2:c.1082G= NP_001298125.1:p.Trp361=
NM_001256657.2:c.1340G= NP_001243586.1:p.Trp447=