Canonical Allele Identifier: CA392243157

Gene: SORD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45068997C>T , CM000677.2:g.45068997C>T	GRCh38
NC_000015.9:g.45361195C>T , CM000677.1:g.45361195C>T	GRCh37
NC_000015.8:g.43148487C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003104.6:c.731C>T MANE Select	NP_003095.2:p.Pro244Leu
ENST00000267814.14:c.731C>T MANE Select	ENSP00000267814.9:p.Pro244Leu
NM_003104.5:c.731C>T	NP_003095.2:p.Pro244Leu
NR_034039.1:n.996C>T
NR_034039.2:n.905C>T
ENST00000267814.13:c.731C>T	ENSP00000267814.9:p.Pro244Leu
ENST00000558580.1:c.668C>T	ENSP00000453122.1:p.Pro223Leu
ENST00000558789.5:c.*268C>T	ENSP00000453904.1:n.*268C>T
ENST00000559230.5:c.*462C>T	ENSP00000452731.1:n.*462C>T
ENST00000674368.1:n.3470C>T
ENST00000674387.1:c.*462C>T	ENSP00000501379.1:n.*462C>T
ENST00000674405.1:c.712+19C>T	ENSP00000501421.1:n.712+19C>T