Canonical Allele Identifier: CA2168375

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535288C>T , CM000664.2:g.232535288C>T	GRCh38
NC_000002.11:g.233399998C>T , CM000664.1:g.233399998C>T	GRCh37
NC_000002.10:g.233108242C>T	NCBI36
NG_008028.1:g.14077C>T
NG_012954.1:g.562C>T
NG_012954.2:g.597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1530C>T MANE Select	ENSP00000258385.3:p.Asn510=
ENST00000258385.7:c.1530C>T	ENSP00000258385.3:p.Asn510=
ENST00000441621.6:c.*712C>T	ENSP00000408819.2:n.*712C>T
ENST00000446616.1:c.*1171C>T	ENSP00000410801.1:n.*1171C>T
ENST00000543200.5:c.1485C>T	ENSP00000438380.1:p.Asn495=
NM_000751.2:c.1530C>T	NP_000742.1:p.Asn510=
NM_001256657.1:c.1485C>T	NP_001243586.1:p.Asn495=
NM_001311195.1:c.948C>T	NP_001298124.1:p.Asn316=
NM_001311196.1:c.1227C>T	NP_001298125.1:p.Asn409=
NR_046333.1:c.-4294966021C>T
NR_046334.1:c.-4294965742C>T
XM_011510524.1:c.1149C>T	XP_011508826.1:p.Asn383=
XM_011510524.2:c.1149C>T	XP_011508826.1:p.Asn383=
NM_000751.3:c.1530C>T MANE Select	NP_000742.1:p.Asn510=
NM_001311195.2:c.948C>T	NP_001298124.1:p.Asn316=
NM_001311196.2:c.1227C>T	NP_001298125.1:p.Asn409=
NM_001256657.2:c.1485C>T	NP_001243586.1:p.Asn495=