Canonical Allele Identifier: CA1335311271
Community Standard Title: NM_000751.3(CHRND):c.812C= (p.Pro271=)
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232530131C= , CM000664.2:g.232530131C= GRCh38
NC_000002.11:g.233394841C= , CM000664.1:g.233394841C= GRCh37
NC_000002.10:g.233103085C= NCBI36
NG_008028.1:g.8920C=

Transcript Alleles

HGVS Amino-acid Change
NM_000751.3:c.812C= MANE Select NP_000742.1:p.Pro271=
ENST00000258385.8:c.812C= MANE Select ENSP00000258385.3:p.Pro271=
NM_000751.2:c.812C= NP_000742.1:p.Pro271=
NM_001256657.1:c.767C= NP_001243586.1:p.Pro256=
NM_001256657.2:c.767C= NP_001243586.1:p.Pro256=
NM_001311195.1:c.239-1221C= NP_001298124.1:n.239-1221C=
NM_001311195.2:c.239-1221C= NP_001298124.1:n.239-1221C=
NM_001311196.1:c.509C= NP_001298125.1:p.Pro170=
NM_001311196.2:c.509C= NP_001298125.1:p.Pro170=
NR_046333.1:c.-4294966730-1221C=
NR_046334.1:c.-4294966460C=
ENST00000258385.7:c.812C= ENSP00000258385.3:p.Pro271=
ENST00000412233.5:c.510-1221C= ENSP00000398143.1:n.510-1221C=
ENST00000441621.6:c.702C= ENSP00000408819.2:p.Thr234=
ENST00000446616.1:c.*453C= ENSP00000410801.1:n.*453C=
ENST00000543200.5:c.767C= ENSP00000438380.1:p.Pro256=
XM_011510524.1:c.431C= XP_011508826.1:p.Pro144=
XM_011510524.2:c.431C= XP_011508826.1:p.Pro144=