Canonical Allele Identifier: CA2648555701

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158613069-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613069G>A , CM000663.2:g.158613069G>A	GRCh38
NC_000001.10:g.158582859G>A , CM000663.1:g.158582859G>A	GRCh37
NC_000001.9:g.156849483G>A	NCBI36
NG_011474.1:g.78648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-108C>T MANE Select	ENSP00000495214.1:n.6990-108C>T
ENST00000368147.8:c.6990-108C>T	ENSP00000357129.4:n.6990-108C>T
ENST00000481212.5:n.431-108C>T
ENST00000498708.1:n.422-108C>T
ENST00000614909.4:c.6990-108C>T	ENSP00000482595.1:n.6990-108C>T
NM_003126.2:c.6990-108C>T	NP_003117.2:n.6990-108C>T
XM_011509916.1:c.6990-108C>T	XP_011508218.1:n.6990-108C>T
XM_011509917.1:c.6972-108C>T	XP_011508219.1:n.6972-108C>T
NM_003126.3:c.6990-108C>T	NP_003117.2:n.6990-108C>T
XM_011509916.2:c.6990-108C>T	XP_011508218.1:n.6990-108C>T
XM_011509917.3:c.6972-108C>T	XP_011508219.1:n.6972-108C>T
NM_003126.4:c.6990-108C>T MANE Select	NP_003117.2:n.6990-108C>T