Canonical Allele Identifier: CA351000551

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232529947G>T , CM000664.2:g.232529947G>T	GRCh38
NC_000002.11:g.233394657G>T , CM000664.1:g.233394657G>T	GRCh37
NC_000002.10:g.233102901G>T	NCBI36
NG_008028.1:g.8736G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.628G>T MANE Select	NP_000742.1:p.Glu210Ter
ENST00000258385.8:c.628G>T MANE Select	ENSP00000258385.3:p.Glu210Ter
NM_000751.2:c.628G>T	NP_000742.1:p.Glu210Ter
NM_001256657.1:c.583G>T	NP_001243586.1:p.Glu195Ter
NM_001256657.2:c.583G>T	NP_001243586.1:p.Glu195Ter
NM_001311195.1:c.238+1291G>T	NP_001298124.1:n.238+1291G>T
NM_001311195.2:c.238+1291G>T	NP_001298124.1:n.238+1291G>T
NM_001311196.1:c.325G>T	NP_001298125.1:p.Glu109Ter
NM_001311196.2:c.325G>T	NP_001298125.1:p.Glu109Ter
NR_046333.1:c.-4294966731+1291G>T
NR_046334.1:c.-4294966644G>T
ENST00000258385.7:c.628G>T	ENSP00000258385.3:p.Glu210Ter
ENST00000412233.5:c.509+1291G>T	ENSP00000398143.1:n.509+1291G>T
ENST00000441621.6:c.518G>T	ENSP00000408819.2:p.Gly173Val
ENST00000446616.1:c.*269G>T	ENSP00000410801.1:n.*269G>T
ENST00000543200.5:c.583G>T	ENSP00000438380.1:p.Glu195Ter
XM_011510524.1:c.247G>T	XP_011508826.1:p.Glu83Ter
XM_011510524.2:c.247G>T	XP_011508826.1:p.Glu83Ter