Canonical Allele Identifier: CA889965579

Gene: SPTA1

Linked Data

• dbSNP Id: rs1034871553
• gnomAD v4: 1-158612719-C-A
• MyVariant Identifiers: chr1:g.158582509C>A (hg19) ; chr1:g.158612719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612719C>A , CM000663.2:g.158612719C>A	GRCh38
NC_000001.10:g.158582509C>A , CM000663.1:g.158582509C>A	GRCh37
NC_000001.9:g.156849133C>A	NCBI36
NG_011474.1:g.78998G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.7134+98G>T MANE Select	ENSP00000495214.1:n.7134+98G>T
ENST00000368147.8:c.7134+98G>T	ENSP00000357129.4:n.7134+98G>T
ENST00000614909.4:c.7134+98G>T	ENSP00000482595.1:n.7134+98G>T
NM_003126.2:c.7134+98G>T	NP_003117.2:n.7134+98G>T
XM_011509916.1:c.7134+98G>T	XP_011508218.1:n.7134+98G>T
XM_011509917.1:c.7116+98G>T	XP_011508219.1:n.7116+98G>T
NM_003126.3:c.7134+98G>T	NP_003117.2:n.7134+98G>T
XM_011509916.2:c.7134+98G>T	XP_011508218.1:n.7134+98G>T
XM_011509917.3:c.7116+98G>T	XP_011508219.1:n.7116+98G>T
NM_003126.4:c.7134+98G>T MANE Select	NP_003117.2:n.7134+98G>T