Canonical Allele Identifier: CA128072

Gene: CHRND

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232526664T>C , CM000664.2:g.232526664T>C	GRCh38
NC_000002.11:g.233391374T>C , CM000664.1:g.233391374T>C	GRCh37
NC_000002.10:g.233099618T>C	NCBI36
NG_008028.1:g.5453T>C
NG_031969.1:g.11202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.188T>C MANE Select	ENSP00000258385.3:p.Leu63Pro
ENST00000258385.7:c.188T>C	ENSP00000258385.3:p.Leu63Pro
ENST00000412233.5:c.188T>C	ENSP00000398143.1:p.Leu63Pro
ENST00000441621.6:c.188T>C	ENSP00000408819.2:p.Leu63Pro
ENST00000446616.1:c.188T>C	ENSP00000410801.1:p.Leu63Pro
ENST00000449596.5:c.188T>C	ENSP00000404950.1:p.Leu63Pro
ENST00000543200.5:c.188T>C	ENSP00000438380.1:p.Leu63Pro
NM_000751.2:c.188T>C	NP_000742.1:p.Leu63Pro
NM_001256657.1:c.188T>C	NP_001243586.1:p.Leu63Pro
NM_001311195.1:c.-84T>C	NP_001298124.1:n.-84T>C
NM_001311196.1:c.-84T>C	NP_001298125.1:n.-84T>C
NR_046333.1:c.-4294967052T>C
NR_046334.1:c.-4294967052T>C
XM_011510524.1:c.-84T>C	XP_011508826.1:n.-84T>C
XM_011510524.2:c.-84T>C	XP_011508826.1:n.-84T>C
NM_000751.3:c.188T>C MANE Select	NP_000742.1:p.Leu63Pro
NM_001311195.2:c.-84T>C	NP_001298124.1:n.-84T>C
NM_001311196.2:c.-84T>C	NP_001298125.1:n.-84T>C
NM_001256657.2:c.188T>C	NP_001243586.1:p.Leu63Pro