Canonical Allele Identifier: CA4930983

Gene: SMPD5 OPLAH

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144051371C>T , CM000670.2:g.144051371C>T	GRCh38
NC_000008.10:g.145106272C>T , CM000670.1:g.145106272C>T	GRCh37
NC_000008.9:g.145178260C>T	NCBI36
NG_032671.1:g.14311G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017570.5:c.3822G>A (OPLAH) MANE Select	NP_060040.1:p.Glu1274=
ENST00000618853.5:c.3822G>A (OPLAH) MANE Select	ENSP00000480476.1:p.Glu1274=
NM_017570.4:c.3822G>A (OPLAH)	NP_060040.1:p.Glu1274=
ENST00000528912.1:n.1239C>T (SMPD5)
ENST00000618853.4:c.3822G>A (OPLAH)	ENSP00000480476.1:p.Glu1274=
ENST00000686861.1:n.594C>T (SMPD5)
ENST00000687871.1:n.842C>T (SMPD5)
ENST00000689734.1:n.842C>T (SMPD5)
ENST00000691496.1:n.679C>T (SMPD5)
ENST00000693651.1:n.843C>T (SMPD5)
XM_011516960.1:c.4110G>A (OPLAH)	XP_011515262.1:p.Glu1370=