Canonical Allele Identifier: CA351005907
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232535140G>T , CM000664.2:g.232535140G>T GRCh38
NC_000002.11:g.233399850G>T , CM000664.1:g.233399850G>T GRCh37
NC_000002.10:g.233108094G>T NCBI36
NG_008028.1:g.13929G>T
NG_012954.1:g.414G>T
NG_012954.2:g.449G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.1382G>T MANE Select ENSP00000258385.3:p.Ser461Ile
ENST00000258385.7:c.1382G>T ENSP00000258385.3:p.Ser461Ile
ENST00000441621.6:c.*564G>T ENSP00000408819.2:n.*564G>T
ENST00000446616.1:c.*1023G>T ENSP00000410801.1:n.*1023G>T
ENST00000543200.5:c.1337G>T ENSP00000438380.1:p.Ser446Ile
NM_000751.2:c.1382G>T NP_000742.1:p.Ser461Ile
NM_001256657.1:c.1337G>T NP_001243586.1:p.Ser446Ile
NM_001311195.1:c.800G>T NP_001298124.1:p.Ser267Ile
NM_001311196.1:c.1079G>T NP_001298125.1:p.Ser360Ile
NR_046333.1:c.-4294966169G>T
NR_046334.1:c.-4294965890G>T
XM_011510524.1:c.1001G>T XP_011508826.1:p.Ser334Ile
XM_011510524.2:c.1001G>T XP_011508826.1:p.Ser334Ile
NM_000751.3:c.1382G>T MANE Select NP_000742.1:p.Ser461Ile
NM_001311195.2:c.800G>T NP_001298124.1:p.Ser267Ile
NM_001311196.2:c.1079G>T NP_001298125.1:p.Ser360Ile
NM_001256657.2:c.1337G>T NP_001243586.1:p.Ser446Ile