Canonical Allele Identifier: CA2168255

Gene: CHRND

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533924G>T , CM000664.2:g.232533924G>T	GRCh38
NC_000002.11:g.233398634G>T , CM000664.1:g.233398634G>T	GRCh37
NC_000002.10:g.233106878G>T	NCBI36
NG_008028.1:g.12713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1048-7G>T MANE Select	ENSP00000258385.3:n.1048-7G>T
ENST00000258385.7:c.1048-7G>T	ENSP00000258385.3:n.1048-7G>T
ENST00000441621.6:c.*230-7G>T	ENSP00000408819.2:n.*230-7G>T
ENST00000446616.1:c.*689-7G>T	ENSP00000410801.1:n.*689-7G>T
ENST00000543200.5:c.1003-7G>T	ENSP00000438380.1:n.1003-7G>T
NM_000751.2:c.1048-7G>T	NP_000742.1:n.1048-7G>T
NM_001256657.1:c.1003-7G>T	NP_001243586.1:n.1003-7G>T
NM_001311195.1:c.466-7G>T	NP_001298124.1:n.466-7G>T
NM_001311196.1:c.745-7G>T	NP_001298125.1:n.745-7G>T
NR_046333.1:c.-4294966503-7G>T
NR_046334.1:c.-4294966224-7G>T
XM_011510524.1:c.667-7G>T	XP_011508826.1:n.667-7G>T
XM_011510524.2:c.667-7G>T	XP_011508826.1:n.667-7G>T
NM_000751.3:c.1048-7G>T MANE Select	NP_000742.1:n.1048-7G>T
NM_001311195.2:c.466-7G>T	NP_001298124.1:n.466-7G>T
NM_001311196.2:c.745-7G>T	NP_001298125.1:n.745-7G>T
NM_001256657.2:c.1003-7G>T	NP_001243586.1:n.1003-7G>T