Canonical Allele Identifier: CA1335311851
Community Standard Title: NM_000751.3(CHRND):c.822T= (p.Ser274=)
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232531353T= , CM000664.2:g.232531353T= GRCh38
NC_000002.11:g.233396063T= , CM000664.1:g.233396063T= GRCh37
NC_000002.10:g.233104307T= NCBI36
NG_008028.1:g.10142T=

Transcript Alleles

HGVS Amino-acid Change
NM_000751.3:c.822T= MANE Select NP_000742.1:p.Ser274=
ENST00000258385.8:c.822T= MANE Select ENSP00000258385.3:p.Ser274=
NM_000751.2:c.822T= NP_000742.1:p.Ser274=
NM_001256657.1:c.777T= NP_001243586.1:p.Ser259=
NM_001256657.2:c.777T= NP_001243586.1:p.Ser259=
NM_001311195.1:c.240T= NP_001298124.1:p.Gly80=
NM_001311195.2:c.240T= NP_001298124.1:p.Gly80=
NM_001311196.1:c.519T= NP_001298125.1:p.Ser173=
NM_001311196.2:c.519T= NP_001298125.1:p.Ser173=
NR_046333.1:c.-4294966729T=
NR_046334.1:c.-4294966450T=
ENST00000258385.7:c.822T= ENSP00000258385.3:p.Ser274=
ENST00000412233.5:c.511T= ENSP00000398143.1:p.Trp171=
ENST00000441621.6:c.*4T= ENSP00000408819.2:n.*4T=
ENST00000446616.1:c.*463T= ENSP00000410801.1:n.*463T=
ENST00000543200.5:c.777T= ENSP00000438380.1:p.Ser259=
XM_011510524.1:c.441T= XP_011508826.1:p.Ser147=
XM_011510524.2:c.441T= XP_011508826.1:p.Ser147=