Canonical Allele Identifier: CA2168367

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535235G>A , CM000664.2:g.232535235G>A	GRCh38
NC_000002.11:g.233399945G>A , CM000664.1:g.233399945G>A	GRCh37
NC_000002.10:g.233108189G>A	NCBI36
NG_008028.1:g.14024G>A
NG_012954.1:g.509G>A
NG_012954.2:g.544G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.1477G>A MANE Select	NP_000742.1:p.Val493Ile
ENST00000258385.8:c.1477G>A MANE Select	ENSP00000258385.3:p.Val493Ile
NM_000751.2:c.1477G>A	NP_000742.1:p.Val493Ile
NM_001256657.1:c.1432G>A	NP_001243586.1:p.Val478Ile
NM_001256657.2:c.1432G>A	NP_001243586.1:p.Val478Ile
NM_001311195.1:c.895G>A	NP_001298124.1:p.Val299Ile
NM_001311195.2:c.895G>A	NP_001298124.1:p.Val299Ile
NM_001311196.1:c.1174G>A	NP_001298125.1:p.Val392Ile
NM_001311196.2:c.1174G>A	NP_001298125.1:p.Val392Ile
NR_046333.1:c.-4294966074G>A
NR_046334.1:c.-4294965795G>A
ENST00000258385.7:c.1477G>A	ENSP00000258385.3:p.Val493Ile
ENST00000441621.6:c.*659G>A	ENSP00000408819.2:n.*659G>A
ENST00000446616.1:c.*1118G>A	ENSP00000410801.1:n.*1118G>A
ENST00000543200.5:c.1432G>A	ENSP00000438380.1:p.Val478Ile
XM_011510524.1:c.1096G>A	XP_011508826.1:p.Val366Ile
XM_011510524.2:c.1096G>A	XP_011508826.1:p.Val366Ile