Canonical Allele Identifier: CA351005174
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534053C>G , CM000664.2:g.232534053C>G GRCh38
NC_000002.11:g.233398763C>G , CM000664.1:g.233398763C>G GRCh37
NC_000002.10:g.233107007C>G NCBI36
NG_008028.1:g.12842C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1170C>G MANE Select ENSP00000258385.3:p.Tyr390Ter
ENST00000258385.7:c.1170C>G ENSP00000258385.3:p.Tyr390Ter
ENST00000441621.6:c.*352C>G ENSP00000408819.2:n.*352C>G
ENST00000446616.1:c.*811C>G ENSP00000410801.1:n.*811C>G
ENST00000543200.5:c.1125C>G ENSP00000438380.1:p.Tyr375Ter
NM_000751.2:c.1170C>G NP_000742.1:p.Tyr390Ter
NM_001256657.1:c.1125C>G NP_001243586.1:p.Tyr375Ter
NM_001311195.1:c.588C>G NP_001298124.1:p.Tyr196Ter
NM_001311196.1:c.867C>G NP_001298125.1:p.Tyr289Ter
NR_046333.1:c.-4294966381C>G
NR_046334.1:c.-4294966102C>G
XM_011510524.1:c.789C>G XP_011508826.1:p.Tyr263Ter
XM_011510524.2:c.789C>G XP_011508826.1:p.Tyr263Ter
NM_000751.3:c.1170C>G MANE Select NP_000742.1:p.Tyr390Ter
NM_001311195.2:c.588C>G NP_001298124.1:p.Tyr196Ter
NM_001311196.2:c.867C>G NP_001298125.1:p.Tyr289Ter
NM_001256657.2:c.1125C>G NP_001243586.1:p.Tyr375Ter