Canonical Allele Identifier: CA31250393

Gene: SPTA1

Linked Data

• dbSNP Id: rs878860412
• gnomAD v4: 1-158612655-A-T
• MyVariant Identifiers: chr1:g.158582445A>T (hg19) ; chr1:g.158612655A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612655A>T , CM000663.2:g.158612655A>T	GRCh38
NC_000001.10:g.158582445A>T , CM000663.1:g.158582445A>T	GRCh37
NC_000001.9:g.156849069A>T	NCBI36
NG_011474.1:g.79062T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+162T>A MANE Select	ENSP00000495214.1:n.7134+162T>A
ENST00000368147.8:c.7134+162T>A	ENSP00000357129.4:n.7134+162T>A
ENST00000614909.4:c.7134+162T>A	ENSP00000482595.1:n.7134+162T>A
NM_003126.2:c.7134+162T>A	NP_003117.2:n.7134+162T>A
XM_011509916.1:c.7134+162T>A	XP_011508218.1:n.7134+162T>A
XM_011509917.1:c.7116+162T>A	XP_011508219.1:n.7116+162T>A
NM_003126.3:c.7134+162T>A	NP_003117.2:n.7134+162T>A
XM_011509916.2:c.7134+162T>A	XP_011508218.1:n.7134+162T>A
XM_011509917.3:c.7116+162T>A	XP_011508219.1:n.7116+162T>A
NM_003126.4:c.7134+162T>A MANE Select	NP_003117.2:n.7134+162T>A