Canonical Allele Identifier: CA2168225

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232531616G>A , CM000664.2:g.232531616G>A	GRCh38
NC_000002.11:g.233396326G>A , CM000664.1:g.233396326G>A	GRCh37
NC_000002.10:g.233104570G>A	NCBI36
NG_008028.1:g.10405G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.1007G>A MANE Select	NP_000742.1:p.Arg336Gln
ENST00000258385.8:c.1007G>A MANE Select	ENSP00000258385.3:p.Arg336Gln
NM_000751.2:c.1007G>A	NP_000742.1:p.Arg336Gln
NM_001256657.1:c.962G>A	NP_001243586.1:p.Arg321Gln
NM_001256657.2:c.962G>A	NP_001243586.1:p.Arg321Gln
NM_001311195.1:c.425G>A	NP_001298124.1:p.Arg142Gln
NM_001311195.2:c.425G>A	NP_001298124.1:p.Arg142Gln
NM_001311196.1:c.704G>A	NP_001298125.1:p.Arg235Gln
NM_001311196.2:c.704G>A	NP_001298125.1:p.Arg235Gln
NR_046333.1:c.-4294966544G>A
NR_046334.1:c.-4294966265G>A
ENST00000258385.7:c.1007G>A	ENSP00000258385.3:p.Arg336Gln
ENST00000412233.5:c.*180G>A	ENSP00000398143.1:n.*180G>A
ENST00000441621.6:c.*189G>A	ENSP00000408819.2:n.*189G>A
ENST00000446616.1:c.*648G>A	ENSP00000410801.1:n.*648G>A
ENST00000543200.5:c.962G>A	ENSP00000438380.1:p.Arg321Gln
XM_011510524.1:c.626G>A	XP_011508826.1:p.Arg209Gln
XM_011510524.2:c.626G>A	XP_011508826.1:p.Arg209Gln