Canonical Allele Identifier: CA350997872

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528536A>T , CM000664.2:g.232528536A>T	GRCh38
NC_000002.11:g.233393246A>T , CM000664.1:g.233393246A>T	GRCh37
NC_000002.10:g.233101490A>T	NCBI36
NG_008028.1:g.7325A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.389A>T MANE Select	NP_000742.1:p.Asn130Ile
ENST00000258385.8:c.389A>T MANE Select	ENSP00000258385.3:p.Asn130Ile
NM_000751.2:c.389A>T	NP_000742.1:p.Asn130Ile
NM_001256657.1:c.344A>T	NP_001243586.1:p.Asn115Ile
NM_001256657.2:c.344A>T	NP_001243586.1:p.Asn115Ile
NM_001311195.1:c.118A>T	NP_001298124.1:p.Thr40Ser
NM_001311195.2:c.118A>T	NP_001298124.1:p.Thr40Ser
NM_001311196.1:c.86A>T	NP_001298125.1:p.Asn29Ile
NM_001311196.2:c.86A>T	NP_001298125.1:p.Asn29Ile
NR_046333.1:c.-4294966851A>T
NR_046334.1:c.-4294966883A>T
ENST00000258385.7:c.389A>T	ENSP00000258385.3:p.Asn130Ile
ENST00000412233.5:c.389A>T	ENSP00000398143.1:p.Asn130Ile
ENST00000441621.6:c.389A>T	ENSP00000408819.2:p.Asn130Ile
ENST00000446616.1:c.*30A>T	ENSP00000410801.1:n.*30A>T
ENST00000449596.5:c.344A>T	ENSP00000404950.1:p.Asn115Ile
ENST00000543200.5:c.344A>T	ENSP00000438380.1:p.Asn115Ile
XM_011510524.1:c.118A>T	XP_011508826.1:p.Thr40Ser
XM_011510524.2:c.118A>T	XP_011508826.1:p.Thr40Ser