Canonical Allele Identifier: CA351002300

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232531355G>A , CM000664.2:g.232531355G>A	GRCh38
NC_000002.11:g.233396065G>A , CM000664.1:g.233396065G>A	GRCh37
NC_000002.10:g.233104309G>A	NCBI36
NG_008028.1:g.10144G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.824G>A MANE Select	NP_000742.1:p.Gly275Asp
ENST00000258385.8:c.824G>A MANE Select	ENSP00000258385.3:p.Gly275Asp
NM_000751.2:c.824G>A	NP_000742.1:p.Gly275Asp
NM_001256657.1:c.779G>A	NP_001243586.1:p.Gly260Asp
NM_001256657.2:c.779G>A	NP_001243586.1:p.Gly260Asp
NM_001311195.1:c.242G>A	NP_001298124.1:p.Gly81Asp
NM_001311195.2:c.242G>A	NP_001298124.1:p.Gly81Asp
NM_001311196.1:c.521G>A	NP_001298125.1:p.Gly174Asp
NM_001311196.2:c.521G>A	NP_001298125.1:p.Gly174Asp
NR_046333.1:c.-4294966727G>A
NR_046334.1:c.-4294966448G>A
ENST00000258385.7:c.824G>A	ENSP00000258385.3:p.Gly275Asp
ENST00000412233.5:c.513G>A	ENSP00000398143.1:p.Trp171Ter
ENST00000441621.6:c.*6G>A	ENSP00000408819.2:n.*6G>A
ENST00000446616.1:c.*465G>A	ENSP00000410801.1:n.*465G>A
ENST00000543200.5:c.779G>A	ENSP00000438380.1:p.Gly260Asp
XM_011510524.1:c.443G>A	XP_011508826.1:p.Gly148Asp
XM_011510524.2:c.443G>A	XP_011508826.1:p.Gly148Asp