Canonical Allele Identifier: CA431809038

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535148C>A , CM000664.2:g.232535148C>A	GRCh38
NC_000002.11:g.233399858C>A , CM000664.1:g.233399858C>A	GRCh37
NC_000002.10:g.233108102C>A	NCBI36
NG_008028.1:g.13937C>A
NG_012954.1:g.422C>A
NG_012954.2:g.457C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.1390C>A MANE Select	NP_000742.1:p.Arg464=
ENST00000258385.8:c.1390C>A MANE Select	ENSP00000258385.3:p.Arg464=
NM_000751.2:c.1390C>A	NP_000742.1:p.Arg464=
NM_001256657.1:c.1345C>A	NP_001243586.1:p.Arg449=
NM_001256657.2:c.1345C>A	NP_001243586.1:p.Arg449=
NM_001311195.1:c.808C>A	NP_001298124.1:p.Arg270=
NM_001311195.2:c.808C>A	NP_001298124.1:p.Arg270=
NM_001311196.1:c.1087C>A	NP_001298125.1:p.Arg363=
NM_001311196.2:c.1087C>A	NP_001298125.1:p.Arg363=
NR_046333.1:c.-4294966161C>A
NR_046334.1:c.-4294965882C>A
ENST00000258385.7:c.1390C>A	ENSP00000258385.3:p.Arg464=
ENST00000441621.6:c.*572C>A	ENSP00000408819.2:n.*572C>A
ENST00000446616.1:c.*1031C>A	ENSP00000410801.1:n.*1031C>A
ENST00000543200.5:c.1345C>A	ENSP00000438380.1:p.Arg449=
XM_011510524.1:c.1009C>A	XP_011508826.1:p.Arg337=
XM_011510524.2:c.1009C>A	XP_011508826.1:p.Arg337=