Canonical Allele Identifier: CA2168035

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528627C>T , CM000664.2:g.232528627C>T	GRCh38
NC_000002.11:g.233393337C>T , CM000664.1:g.233393337C>T	GRCh37
NC_000002.10:g.233101581C>T	NCBI36
NG_008028.1:g.7416C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.480C>T MANE Select	NP_000742.1:p.Phe160=
ENST00000258385.8:c.480C>T MANE Select	ENSP00000258385.3:p.Phe160=
NM_000751.2:c.480C>T	NP_000742.1:p.Phe160=
NM_001256657.1:c.435C>T	NP_001243586.1:p.Phe145=
NM_001256657.2:c.435C>T	NP_001243586.1:p.Phe145=
NM_001311195.1:c.209C>T	NP_001298124.1:p.Ser70Leu
NM_001311195.2:c.209C>T	NP_001298124.1:p.Ser70Leu
NM_001311196.1:c.177C>T	NP_001298125.1:p.Phe59=
NM_001311196.2:c.177C>T	NP_001298125.1:p.Phe59=
NR_046333.1:c.-4294966760C>T
NR_046334.1:c.-4294966792C>T
ENST00000258385.7:c.480C>T	ENSP00000258385.3:p.Phe160=
ENST00000412233.5:c.480C>T	ENSP00000398143.1:p.Phe160=
ENST00000441621.6:c.480C>T	ENSP00000408819.2:p.Phe160=
ENST00000446616.1:c.*121C>T	ENSP00000410801.1:n.*121C>T
ENST00000449596.5:c.435C>T	ENSP00000404950.1:p.Phe145=
ENST00000543200.5:c.435C>T	ENSP00000438380.1:p.Phe145=
XM_011510524.1:c.209C>T	XP_011508826.1:p.Ser70Leu
XM_011510524.2:c.209C>T	XP_011508826.1:p.Ser70Leu