Canonical Allele Identifier: CA2168127

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232530049C>T , CM000664.2:g.232530049C>T	GRCh38
NC_000002.11:g.233394759C>T , CM000664.1:g.233394759C>T	GRCh37
NC_000002.10:g.233103003C>T	NCBI36
NG_008028.1:g.8838C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.730C>T MANE Select	NP_000742.1:p.Arg244Cys
ENST00000258385.8:c.730C>T MANE Select	ENSP00000258385.3:p.Arg244Cys
NM_000751.2:c.730C>T	NP_000742.1:p.Arg244Cys
NM_001256657.1:c.685C>T	NP_001243586.1:p.Arg229Cys
NM_001256657.2:c.685C>T	NP_001243586.1:p.Arg229Cys
NM_001311195.1:c.239-1303C>T	NP_001298124.1:n.239-1303C>T
NM_001311195.2:c.239-1303C>T	NP_001298124.1:n.239-1303C>T
NM_001311196.1:c.427C>T	NP_001298125.1:p.Arg143Cys
NM_001311196.2:c.427C>T	NP_001298125.1:p.Arg143Cys
NR_046333.1:c.-4294966730-1303C>T
NR_046334.1:c.-4294966542C>T
ENST00000258385.7:c.730C>T	ENSP00000258385.3:p.Arg244Cys
ENST00000412233.5:c.510-1303C>T	ENSP00000398143.1:n.510-1303C>T
ENST00000441621.6:c.620C>T	ENSP00000408819.2:p.Pro207Leu
ENST00000446616.1:c.*371C>T	ENSP00000410801.1:n.*371C>T
ENST00000543200.5:c.685C>T	ENSP00000438380.1:p.Arg229Cys
XM_011510524.1:c.349C>T	XP_011508826.1:p.Arg117Cys
XM_011510524.2:c.349C>T	XP_011508826.1:p.Arg117Cys