Canonical Allele Identifier: CA351005339
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534130C>G , CM000664.2:g.232534130C>G GRCh38
NC_000002.11:g.233398840C>G , CM000664.1:g.233398840C>G GRCh37
NC_000002.10:g.233107084C>G NCBI36
NG_008028.1:g.12919C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1247C>G MANE Select ENSP00000258385.3:p.Thr416Ser
ENST00000258385.7:c.1247C>G ENSP00000258385.3:p.Thr416Ser
ENST00000441621.6:c.*429C>G ENSP00000408819.2:n.*429C>G
ENST00000446616.1:c.*888C>G ENSP00000410801.1:n.*888C>G
ENST00000543200.5:c.1202C>G ENSP00000438380.1:p.Thr401Ser
NM_000751.2:c.1247C>G NP_000742.1:p.Thr416Ser
NM_001256657.1:c.1202C>G NP_001243586.1:p.Thr401Ser
NM_001311195.1:c.665C>G NP_001298124.1:p.Thr222Ser
NM_001311196.1:c.944C>G NP_001298125.1:p.Thr315Ser
NR_046333.1:c.-4294966304C>G
NR_046334.1:c.-4294966025C>G
XM_011510524.1:c.866C>G XP_011508826.1:p.Thr289Ser
XM_011510524.2:c.866C>G XP_011508826.1:p.Thr289Ser
NM_000751.3:c.1247C>G MANE Select NP_000742.1:p.Thr416Ser
NM_001311195.2:c.665C>G NP_001298124.1:p.Thr222Ser
NM_001311196.2:c.944C>G NP_001298125.1:p.Thr315Ser
NM_001256657.2:c.1202C>G NP_001243586.1:p.Thr401Ser