Canonical Allele Identifier: CA6479564

Gene: SPX

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21529007G>A , CM000674.2:g.21529007G>A	GRCh38
NC_000012.11:g.21681941G>A , CM000674.1:g.21681941G>A	GRCh37
NC_000012.10:g.21573208G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030572.4:c.215G>A MANE Select	NP_085049.1:p.Arg72Gln
ENST00000256969.7:c.215G>A MANE Select	ENSP00000256969.2:p.Arg72Gln
NM_030572.2:c.215G>A	NP_085049.1:p.Arg72Gln
NM_030572.3:c.215G>A	NP_085049.1:p.Arg72Gln
NR_135187.1:n.362G>A
NR_135187.2:n.266G>A
NR_135188.1:n.234G>A
NR_135188.2:n.207G>A
ENST00000256969.6:c.215G>A	ENSP00000256969.2:p.Arg72Gln
ENST00000535033.5:n.219G>A
ENST00000535139.5:n.362G>A
ENST00000537527.1:n.207G>A
ENST00000543800.5:n.223G>A
ENST00000544637.5:n.97G>A
ENST00000546199.1:c.88G>A	ENSP00000440877.1:p.Glu30Lys
ENST00000649016.1:n.264G>A