Canonical Allele Identifier: CA2168023

Gene: CHRND

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528561C>T , CM000664.2:g.232528561C>T	GRCh38
NC_000002.11:g.233393271C>T , CM000664.1:g.233393271C>T	GRCh37
NC_000002.10:g.233101515C>T	NCBI36
NG_008028.1:g.7350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.414C>T MANE Select	ENSP00000258385.3:p.Phe138=
ENST00000258385.7:c.414C>T	ENSP00000258385.3:p.Phe138=
ENST00000412233.5:c.414C>T	ENSP00000398143.1:p.Phe138=
ENST00000441621.6:c.414C>T	ENSP00000408819.2:p.Phe138=
ENST00000446616.1:c.*55C>T	ENSP00000410801.1:n.*55C>T
ENST00000449596.5:c.369C>T	ENSP00000404950.1:p.Phe123=
ENST00000543200.5:c.369C>T	ENSP00000438380.1:p.Phe123=
NM_000751.2:c.414C>T	NP_000742.1:p.Phe138=
NM_001256657.1:c.369C>T	NP_001243586.1:p.Phe123=
NM_001311195.1:c.143C>T	NP_001298124.1:p.Ser48Leu
NM_001311196.1:c.111C>T	NP_001298125.1:p.Phe37=
NR_046333.1:c.-4294966826C>T
NR_046334.1:c.-4294966858C>T
XM_011510524.1:c.143C>T	XP_011508826.1:p.Ser48Leu
XM_011510524.2:c.143C>T	XP_011508826.1:p.Ser48Leu
NM_000751.3:c.414C>T MANE Select	NP_000742.1:p.Phe138=
NM_001311195.2:c.143C>T	NP_001298124.1:p.Ser48Leu
NM_001311196.2:c.111C>T	NP_001298125.1:p.Phe37=
NM_001256657.2:c.369C>T	NP_001243586.1:p.Phe123=