Canonical Allele Identifier: CA2168120

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232530017G>A , CM000664.2:g.232530017G>A	GRCh38
NC_000002.11:g.233394727G>A , CM000664.1:g.233394727G>A	GRCh37
NC_000002.10:g.233102971G>A	NCBI36
NG_008028.1:g.8806G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.698G>A MANE Select	NP_000742.1:p.Arg233His
ENST00000258385.8:c.698G>A MANE Select	ENSP00000258385.3:p.Arg233His
NM_000751.2:c.698G>A	NP_000742.1:p.Arg233His
NM_001256657.1:c.653G>A	NP_001243586.1:p.Arg218His
NM_001256657.2:c.653G>A	NP_001243586.1:p.Arg218His
NM_001311195.1:c.239-1335G>A	NP_001298124.1:n.239-1335G>A
NM_001311195.2:c.239-1335G>A	NP_001298124.1:n.239-1335G>A
NM_001311196.1:c.395G>A	NP_001298125.1:p.Arg132His
NM_001311196.2:c.395G>A	NP_001298125.1:p.Arg132His
NR_046333.1:c.-4294966730-1335G>A
NR_046334.1:c.-4294966574G>A
ENST00000258385.7:c.698G>A	ENSP00000258385.3:p.Arg233His
ENST00000412233.5:c.510-1335G>A	ENSP00000398143.1:n.510-1335G>A
ENST00000441621.6:c.588G>A	ENSP00000408819.2:p.Pro196=
ENST00000446616.1:c.*339G>A	ENSP00000410801.1:n.*339G>A
ENST00000543200.5:c.653G>A	ENSP00000438380.1:p.Arg218His
XM_011510524.1:c.317G>A	XP_011508826.1:p.Arg106His
XM_011510524.2:c.317G>A	XP_011508826.1:p.Arg106His