Canonical Allele Identifier: CA2168313
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534215C>T , CM000664.2:g.232534215C>T GRCh38
NC_000002.11:g.233398925C>T , CM000664.1:g.233398925C>T GRCh37
NC_000002.10:g.233107169C>T NCBI36
NG_008028.1:g.13004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1253-9C>T MANE Select ENSP00000258385.3:n.1253-9C>T
ENST00000258385.7:c.1253-9C>T ENSP00000258385.3:n.1253-9C>T
ENST00000441621.6:c.*435-9C>T ENSP00000408819.2:n.*435-9C>T
ENST00000446616.1:c.*894-9C>T ENSP00000410801.1:n.*894-9C>T
ENST00000543200.5:c.1208-9C>T ENSP00000438380.1:n.1208-9C>T
NM_000751.2:c.1253-9C>T NP_000742.1:n.1253-9C>T
NM_001256657.1:c.1208-9C>T NP_001243586.1:n.1208-9C>T
NM_001311195.1:c.671-9C>T NP_001298124.1:n.671-9C>T
NM_001311196.1:c.950-9C>T NP_001298125.1:n.950-9C>T
NR_046333.1:c.-4294966298-9C>T
NR_046334.1:c.-4294966019-9C>T
XM_011510524.1:c.872-9C>T XP_011508826.1:n.872-9C>T
XM_011510524.2:c.872-9C>T XP_011508826.1:n.872-9C>T
NM_000751.3:c.1253-9C>T MANE Select NP_000742.1:n.1253-9C>T
NM_001311195.2:c.671-9C>T NP_001298124.1:n.671-9C>T
NM_001311196.2:c.950-9C>T NP_001298125.1:n.950-9C>T
NM_001256657.2:c.1208-9C>T NP_001243586.1:n.1208-9C>T