Canonical Allele Identifier: CA2648555560

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612698-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612698G>T , CM000663.2:g.158612698G>T	GRCh38
NC_000001.10:g.158582488G>T , CM000663.1:g.158582488G>T	GRCh37
NC_000001.9:g.156849112G>T	NCBI36
NG_011474.1:g.79019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+119C>A MANE Select	ENSP00000495214.1:n.7134+119C>A
ENST00000368147.8:c.7134+119C>A	ENSP00000357129.4:n.7134+119C>A
ENST00000614909.4:c.7134+119C>A	ENSP00000482595.1:n.7134+119C>A
NM_003126.2:c.7134+119C>A	NP_003117.2:n.7134+119C>A
XM_011509916.1:c.7134+119C>A	XP_011508218.1:n.7134+119C>A
XM_011509917.1:c.7116+119C>A	XP_011508219.1:n.7116+119C>A
NM_003126.3:c.7134+119C>A	NP_003117.2:n.7134+119C>A
XM_011509916.2:c.7134+119C>A	XP_011508218.1:n.7134+119C>A
XM_011509917.3:c.7116+119C>A	XP_011508219.1:n.7116+119C>A
NM_003126.4:c.7134+119C>A MANE Select	NP_003117.2:n.7134+119C>A