Canonical Allele Identifier: CA350998301

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528599G>C , CM000664.2:g.232528599G>C	GRCh38
NC_000002.11:g.233393309G>C , CM000664.1:g.233393309G>C	GRCh37
NC_000002.10:g.233101553G>C	NCBI36
NG_008028.1:g.7388G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000751.3:c.452G>C MANE Select	NP_000742.1:p.Cys151Ser
ENST00000258385.8:c.452G>C MANE Select	ENSP00000258385.3:p.Cys151Ser
NM_000751.2:c.452G>C	NP_000742.1:p.Cys151Ser
NM_001256657.1:c.407G>C	NP_001243586.1:p.Cys136Ser
NM_001256657.2:c.407G>C	NP_001243586.1:p.Cys136Ser
NM_001311195.1:c.181G>C	NP_001298124.1:p.Ala61Pro
NM_001311195.2:c.181G>C	NP_001298124.1:p.Ala61Pro
NM_001311196.1:c.149G>C	NP_001298125.1:p.Cys50Ser
NM_001311196.2:c.149G>C	NP_001298125.1:p.Cys50Ser
NR_046333.1:c.-4294966788G>C
NR_046334.1:c.-4294966820G>C
ENST00000258385.7:c.452G>C	ENSP00000258385.3:p.Cys151Ser
ENST00000412233.5:c.452G>C	ENSP00000398143.1:p.Cys151Ser
ENST00000441621.6:c.452G>C	ENSP00000408819.2:p.Cys151Ser
ENST00000446616.1:c.*93G>C	ENSP00000410801.1:n.*93G>C
ENST00000449596.5:c.407G>C	ENSP00000404950.1:p.Cys136Ser
ENST00000543200.5:c.407G>C	ENSP00000438380.1:p.Cys136Ser
XM_011510524.1:c.181G>C	XP_011508826.1:p.Ala61Pro
XM_011510524.2:c.181G>C	XP_011508826.1:p.Ala61Pro