Canonical Allele Identifier: CA2168195

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232531465T>A , CM000664.2:g.232531465T>A	GRCh38
NC_000002.11:g.233396175T>A , CM000664.1:g.233396175T>A	GRCh37
NC_000002.10:g.233104419T>A	NCBI36
NG_008028.1:g.10254T>A

Transcript Alleles

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