Canonical Allele Identifier: CA351005201
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534065G>T , CM000664.2:g.232534065G>T GRCh38
NC_000002.11:g.233398775G>T , CM000664.1:g.233398775G>T GRCh37
NC_000002.10:g.233107019G>T NCBI36
NG_008028.1:g.12854G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1182G>T MANE Select ENSP00000258385.3:p.Lys394Asn
ENST00000258385.7:c.1182G>T ENSP00000258385.3:p.Lys394Asn
ENST00000441621.6:c.*364G>T ENSP00000408819.2:n.*364G>T
ENST00000446616.1:c.*823G>T ENSP00000410801.1:n.*823G>T
ENST00000543200.5:c.1137G>T ENSP00000438380.1:p.Lys379Asn
NM_000751.2:c.1182G>T NP_000742.1:p.Lys394Asn
NM_001256657.1:c.1137G>T NP_001243586.1:p.Lys379Asn
NM_001311195.1:c.600G>T NP_001298124.1:p.Lys200Asn
NM_001311196.1:c.879G>T NP_001298125.1:p.Lys293Asn
NR_046333.1:c.-4294966369G>T
NR_046334.1:c.-4294966090G>T
XM_011510524.1:c.801G>T XP_011508826.1:p.Lys267Asn
XM_011510524.2:c.801G>T XP_011508826.1:p.Lys267Asn
NM_000751.3:c.1182G>T MANE Select NP_000742.1:p.Lys394Asn
NM_001311195.2:c.600G>T NP_001298124.1:p.Lys200Asn
NM_001311196.2:c.879G>T NP_001298125.1:p.Lys293Asn
NM_001256657.2:c.1137G>T NP_001243586.1:p.Lys379Asn