Canonical Allele Identifier: CA2168224

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232531615C>T , CM000664.2:g.232531615C>T	GRCh38
NC_000002.11:g.233396325C>T , CM000664.1:g.233396325C>T	GRCh37
NC_000002.10:g.233104569C>T	NCBI36
NG_008028.1:g.10404C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.1006C>T MANE Select	NP_000742.1:p.Arg336Ter
ENST00000258385.8:c.1006C>T MANE Select	ENSP00000258385.3:p.Arg336Ter
NM_000751.2:c.1006C>T	NP_000742.1:p.Arg336Ter
NM_001256657.1:c.961C>T	NP_001243586.1:p.Arg321Ter
NM_001256657.2:c.961C>T	NP_001243586.1:p.Arg321Ter
NM_001311195.1:c.424C>T	NP_001298124.1:p.Arg142Ter
NM_001311195.2:c.424C>T	NP_001298124.1:p.Arg142Ter
NM_001311196.1:c.703C>T	NP_001298125.1:p.Arg235Ter
NM_001311196.2:c.703C>T	NP_001298125.1:p.Arg235Ter
NR_046333.1:c.-4294966545C>T
NR_046334.1:c.-4294966266C>T
ENST00000258385.7:c.1006C>T	ENSP00000258385.3:p.Arg336Ter
ENST00000412233.5:c.*179C>T	ENSP00000398143.1:n.*179C>T
ENST00000441621.6:c.*188C>T	ENSP00000408819.2:n.*188C>T
ENST00000446616.1:c.*647C>T	ENSP00000410801.1:n.*647C>T
ENST00000543200.5:c.961C>T	ENSP00000438380.1:p.Arg321Ter
XM_011510524.1:c.625C>T	XP_011508826.1:p.Arg209Ter
XM_011510524.2:c.625C>T	XP_011508826.1:p.Arg209Ter