Canonical Allele Identifier: CA2168024

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528562G>A , CM000664.2:g.232528562G>A	GRCh38
NC_000002.11:g.233393272G>A , CM000664.1:g.233393272G>A	GRCh37
NC_000002.10:g.233101516G>A	NCBI36
NG_008028.1:g.7351G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.415G>A MANE Select	NP_000742.1:p.Val139Met
ENST00000258385.8:c.415G>A MANE Select	ENSP00000258385.3:p.Val139Met
NM_000751.2:c.415G>A	NP_000742.1:p.Val139Met
NM_001256657.1:c.370G>A	NP_001243586.1:p.Val124Met
NM_001256657.2:c.370G>A	NP_001243586.1:p.Val124Met
NM_001311195.1:c.144G>A	NP_001298124.1:p.Ser48=
NM_001311195.2:c.144G>A	NP_001298124.1:p.Ser48=
NM_001311196.1:c.112G>A	NP_001298125.1:p.Val38Met
NM_001311196.2:c.112G>A	NP_001298125.1:p.Val38Met
NR_046333.1:c.-4294966825G>A
NR_046334.1:c.-4294966857G>A
ENST00000258385.7:c.415G>A	ENSP00000258385.3:p.Val139Met
ENST00000412233.5:c.415G>A	ENSP00000398143.1:p.Val139Met
ENST00000441621.6:c.415G>A	ENSP00000408819.2:p.Val139Met
ENST00000446616.1:c.*56G>A	ENSP00000410801.1:n.*56G>A
ENST00000449596.5:c.370G>A	ENSP00000404950.1:p.Val124Met
ENST00000543200.5:c.370G>A	ENSP00000438380.1:p.Val124Met
XM_011510524.1:c.144G>A	XP_011508826.1:p.Ser48=
XM_011510524.2:c.144G>A	XP_011508826.1:p.Ser48=