Canonical Allele Identifier: CA2168172

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232531350A>C , CM000664.2:g.232531350A>C	GRCh38
NC_000002.11:g.233396060A>C , CM000664.1:g.233396060A>C	GRCh37
NC_000002.10:g.233104304A>C	NCBI36
NG_008028.1:g.10139A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.821-2A>C MANE Select	NP_000742.1:n.821-2A>C
ENST00000258385.8:c.821-2A>C MANE Select	ENSP00000258385.3:n.821-2A>C
NM_000751.2:c.821-2A>C	NP_000742.1:n.821-2A>C
NM_001256657.1:c.776-2A>C	NP_001243586.1:n.776-2A>C
NM_001256657.2:c.776-2A>C	NP_001243586.1:n.776-2A>C
NM_001311195.1:c.239-2A>C	NP_001298124.1:n.239-2A>C
NM_001311195.2:c.239-2A>C	NP_001298124.1:n.239-2A>C
NM_001311196.1:c.518-2A>C	NP_001298125.1:n.518-2A>C
NM_001311196.2:c.518-2A>C	NP_001298125.1:n.518-2A>C
NR_046333.1:c.-4294966730-2A>C
NR_046334.1:c.-4294966451-2A>C
ENST00000258385.7:c.821-2A>C	ENSP00000258385.3:n.821-2A>C
ENST00000412233.5:c.510-2A>C	ENSP00000398143.1:n.510-2A>C
ENST00000441621.6:c.*3-2A>C	ENSP00000408819.2:n.*3-2A>C
ENST00000446616.1:c.*462-2A>C	ENSP00000410801.1:n.*462-2A>C
ENST00000543200.5:c.776-2A>C	ENSP00000438380.1:n.776-2A>C
XM_011510524.1:c.440-2A>C	XP_011508826.1:n.440-2A>C
XM_011510524.2:c.440-2A>C	XP_011508826.1:n.440-2A>C