Canonical Allele Identifier: CA2168111

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232529970G>A , CM000664.2:g.232529970G>A	GRCh38
NC_000002.11:g.233394680G>A , CM000664.1:g.233394680G>A	GRCh37
NC_000002.10:g.233102924G>A	NCBI36
NG_008028.1:g.8759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.651G>A MANE Select	ENSP00000258385.3:p.Pro217=
ENST00000258385.7:c.651G>A	ENSP00000258385.3:p.Pro217=
ENST00000412233.5:c.509+1314G>A	ENSP00000398143.1:n.509+1314G>A
ENST00000441621.6:c.541G>A	ENSP00000408819.2:p.Gly181Ser
ENST00000446616.1:c.*292G>A	ENSP00000410801.1:n.*292G>A
ENST00000543200.5:c.606G>A	ENSP00000438380.1:p.Pro202=
NM_000751.2:c.651G>A	NP_000742.1:p.Pro217=
NM_001256657.1:c.606G>A	NP_001243586.1:p.Pro202=
NM_001311195.1:c.238+1314G>A	NP_001298124.1:n.238+1314G>A
NM_001311196.1:c.348G>A	NP_001298125.1:p.Pro116=
NR_046333.1:c.-4294966731+1314G>A
NR_046334.1:c.-4294966621G>A
XM_011510524.1:c.270G>A	XP_011508826.1:p.Pro90=
XM_011510524.2:c.270G>A	XP_011508826.1:p.Pro90=
NM_000751.3:c.651G>A MANE Select	NP_000742.1:p.Pro217=
NM_001311195.2:c.238+1314G>A	NP_001298124.1:n.238+1314G>A
NM_001311196.2:c.348G>A	NP_001298125.1:p.Pro116=
NM_001256657.2:c.606G>A	NP_001243586.1:p.Pro202=