Canonical Allele Identifier: CA2168369

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535238T>C , CM000664.2:g.232535238T>C	GRCh38
NC_000002.11:g.233399948T>C , CM000664.1:g.233399948T>C	GRCh37
NC_000002.10:g.233108192T>C	NCBI36
NG_008028.1:g.14027T>C
NG_012954.1:g.512T>C
NG_012954.2:g.547T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.1480T>C MANE Select	NP_000742.1:p.Tyr494His
ENST00000258385.8:c.1480T>C MANE Select	ENSP00000258385.3:p.Tyr494His
NM_000751.2:c.1480T>C	NP_000742.1:p.Tyr494His
NM_001256657.1:c.1435T>C	NP_001243586.1:p.Tyr479His
NM_001256657.2:c.1435T>C	NP_001243586.1:p.Tyr479His
NM_001311195.1:c.898T>C	NP_001298124.1:p.Tyr300His
NM_001311195.2:c.898T>C	NP_001298124.1:p.Tyr300His
NM_001311196.1:c.1177T>C	NP_001298125.1:p.Tyr393His
NM_001311196.2:c.1177T>C	NP_001298125.1:p.Tyr393His
NR_046333.1:c.-4294966071T>C
NR_046334.1:c.-4294965792T>C
ENST00000258385.7:c.1480T>C	ENSP00000258385.3:p.Tyr494His
ENST00000441621.6:c.*662T>C	ENSP00000408819.2:n.*662T>C
ENST00000446616.1:c.*1121T>C	ENSP00000410801.1:n.*1121T>C
ENST00000543200.5:c.1435T>C	ENSP00000438380.1:p.Tyr479His
XM_011510524.1:c.1099T>C	XP_011508826.1:p.Tyr367His
XM_011510524.2:c.1099T>C	XP_011508826.1:p.Tyr367His