Canonical Allele Identifier: CA431809115

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535204G>A , CM000664.2:g.232535204G>A	GRCh38
NC_000002.11:g.233399914G>A , CM000664.1:g.233399914G>A	GRCh37
NC_000002.10:g.233108158G>A	NCBI36
NG_008028.1:g.13993G>A
NG_012954.1:g.478G>A
NG_012954.2:g.513G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.1446G>A MANE Select	NP_000742.1:p.Val482=
ENST00000258385.8:c.1446G>A MANE Select	ENSP00000258385.3:p.Val482=
NM_000751.2:c.1446G>A	NP_000742.1:p.Val482=
NM_001256657.1:c.1401G>A	NP_001243586.1:p.Val467=
NM_001256657.2:c.1401G>A	NP_001243586.1:p.Val467=
NM_001311195.1:c.864G>A	NP_001298124.1:p.Val288=
NM_001311195.2:c.864G>A	NP_001298124.1:p.Val288=
NM_001311196.1:c.1143G>A	NP_001298125.1:p.Val381=
NM_001311196.2:c.1143G>A	NP_001298125.1:p.Val381=
NR_046333.1:c.-4294966105G>A
NR_046334.1:c.-4294965826G>A
ENST00000258385.7:c.1446G>A	ENSP00000258385.3:p.Val482=
ENST00000441621.6:c.*628G>A	ENSP00000408819.2:n.*628G>A
ENST00000446616.1:c.*1087G>A	ENSP00000410801.1:n.*1087G>A
ENST00000543200.5:c.1401G>A	ENSP00000438380.1:p.Val467=
XM_011510524.1:c.1065G>A	XP_011508826.1:p.Val355=
XM_011510524.2:c.1065G>A	XP_011508826.1:p.Val355=