Canonical Allele Identifier: CA350998097

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528570G>C , CM000664.2:g.232528570G>C	GRCh38
NC_000002.11:g.233393280G>C , CM000664.1:g.233393280G>C	GRCh37
NC_000002.10:g.233101524G>C	NCBI36
NG_008028.1:g.7359G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.423G>C MANE Select	NP_000742.1:p.Trp141Cys
ENST00000258385.8:c.423G>C MANE Select	ENSP00000258385.3:p.Trp141Cys
NM_000751.2:c.423G>C	NP_000742.1:p.Trp141Cys
NM_001256657.1:c.378G>C	NP_001243586.1:p.Trp126Cys
NM_001256657.2:c.378G>C	NP_001243586.1:p.Trp126Cys
NM_001311195.1:c.152G>C	NP_001298124.1:p.Gly51Ala
NM_001311195.2:c.152G>C	NP_001298124.1:p.Gly51Ala
NM_001311196.1:c.120G>C	NP_001298125.1:p.Trp40Cys
NM_001311196.2:c.120G>C	NP_001298125.1:p.Trp40Cys
NR_046333.1:c.-4294966817G>C
NR_046334.1:c.-4294966849G>C
ENST00000258385.7:c.423G>C	ENSP00000258385.3:p.Trp141Cys
ENST00000412233.5:c.423G>C	ENSP00000398143.1:p.Trp141Cys
ENST00000441621.6:c.423G>C	ENSP00000408819.2:p.Trp141Cys
ENST00000446616.1:c.*64G>C	ENSP00000410801.1:n.*64G>C
ENST00000449596.5:c.378G>C	ENSP00000404950.1:p.Trp126Cys
ENST00000543200.5:c.378G>C	ENSP00000438380.1:p.Trp126Cys
XM_011510524.1:c.152G>C	XP_011508826.1:p.Gly51Ala
XM_011510524.2:c.152G>C	XP_011508826.1:p.Gly51Ala