Canonical Allele Identifier: CA2648555554

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612696-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612696A>C , CM000663.2:g.158612696A>C	GRCh38
NC_000001.10:g.158582486A>C , CM000663.1:g.158582486A>C	GRCh37
NC_000001.9:g.156849110A>C	NCBI36
NG_011474.1:g.79021T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+121T>G MANE Select	ENSP00000495214.1:n.7134+121T>G
ENST00000368147.8:c.7134+121T>G	ENSP00000357129.4:n.7134+121T>G
ENST00000614909.4:c.7134+121T>G	ENSP00000482595.1:n.7134+121T>G
NM_003126.2:c.7134+121T>G	NP_003117.2:n.7134+121T>G
XM_011509916.1:c.7134+121T>G	XP_011508218.1:n.7134+121T>G
XM_011509917.1:c.7116+121T>G	XP_011508219.1:n.7116+121T>G
NM_003126.3:c.7134+121T>G	NP_003117.2:n.7134+121T>G
XM_011509916.2:c.7134+121T>G	XP_011508218.1:n.7134+121T>G
XM_011509917.3:c.7116+121T>G	XP_011508219.1:n.7116+121T>G
NM_003126.4:c.7134+121T>G MANE Select	NP_003117.2:n.7134+121T>G