Canonical Allele Identifier: CA2168197

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232531472C>T , CM000664.2:g.232531472C>T	GRCh38
NC_000002.11:g.233396182C>T , CM000664.1:g.233396182C>T	GRCh37
NC_000002.10:g.233104426C>T	NCBI36
NG_008028.1:g.10261C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.932+9C>T MANE Select	NP_000742.1:n.932+9C>T
ENST00000258385.8:c.932+9C>T MANE Select	ENSP00000258385.3:n.932+9C>T
NM_000751.2:c.932+9C>T	NP_000742.1:n.932+9C>T
NM_001256657.1:c.887+9C>T	NP_001243586.1:n.887+9C>T
NM_001256657.2:c.887+9C>T	NP_001243586.1:n.887+9C>T
NM_001311195.1:c.350+9C>T	NP_001298124.1:n.350+9C>T
NM_001311195.2:c.350+9C>T	NP_001298124.1:n.350+9C>T
NM_001311196.1:c.629+9C>T	NP_001298125.1:n.629+9C>T
NM_001311196.2:c.629+9C>T	NP_001298125.1:n.629+9C>T
NR_046333.1:c.-4294966619+9C>T
NR_046334.1:c.-4294966340+9C>T
ENST00000258385.7:c.932+9C>T	ENSP00000258385.3:n.932+9C>T
ENST00000412233.5:c.*105+9C>T	ENSP00000398143.1:n.*105+9C>T
ENST00000441621.6:c.*114+9C>T	ENSP00000408819.2:n.*114+9C>T
ENST00000446616.1:c.*573+9C>T	ENSP00000410801.1:n.*573+9C>T
ENST00000543200.5:c.887+9C>T	ENSP00000438380.1:n.887+9C>T
XM_011510524.1:c.551+9C>T	XP_011508826.1:n.551+9C>T
XM_011510524.2:c.551+9C>T	XP_011508826.1:n.551+9C>T