Canonical Allele Identifier: CA2168125

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232530046C>T , CM000664.2:g.232530046C>T	GRCh38
NC_000002.11:g.233394756C>T , CM000664.1:g.233394756C>T	GRCh37
NC_000002.10:g.233103000C>T	NCBI36
NG_008028.1:g.8835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.727C>T MANE Select	ENSP00000258385.3:p.Arg243Cys
ENST00000258385.7:c.727C>T	ENSP00000258385.3:p.Arg243Cys
ENST00000412233.5:c.510-1306C>T	ENSP00000398143.1:n.510-1306C>T
ENST00000441621.6:c.617C>T	ENSP00000408819.2:p.Pro206Leu
ENST00000446616.1:c.*368C>T	ENSP00000410801.1:n.*368C>T
ENST00000543200.5:c.682C>T	ENSP00000438380.1:p.Arg228Cys
NM_000751.2:c.727C>T	NP_000742.1:p.Arg243Cys
NM_001256657.1:c.682C>T	NP_001243586.1:p.Arg228Cys
NM_001311195.1:c.239-1306C>T	NP_001298124.1:n.239-1306C>T
NM_001311196.1:c.424C>T	NP_001298125.1:p.Arg142Cys
NR_046333.1:c.-4294966730-1306C>T
NR_046334.1:c.-4294966545C>T
XM_011510524.1:c.346C>T	XP_011508826.1:p.Arg116Cys
XM_011510524.2:c.346C>T	XP_011508826.1:p.Arg116Cys
NM_000751.3:c.727C>T MANE Select	NP_000742.1:p.Arg243Cys
NM_001311195.2:c.239-1306C>T	NP_001298124.1:n.239-1306C>T
NM_001311196.2:c.424C>T	NP_001298125.1:p.Arg142Cys
NM_001256657.2:c.682C>T	NP_001243586.1:p.Arg228Cys