Canonical Allele Identifier: CA1201536990

Gene: SPTA1

Linked Data

• dbSNP Id: rs1571366834
• gnomAD v3: 1-158613052-A-G
• gnomAD v4: 1-158613052-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613052A>G , CM000663.2:g.158613052A>G	GRCh38
NC_000001.10:g.158582842A>G , CM000663.1:g.158582842A>G	GRCh37
NC_000001.9:g.156849466A>G	NCBI36
NG_011474.1:g.78665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-91T>C MANE Select	ENSP00000495214.1:n.6990-91T>C
ENST00000368147.8:c.6990-91T>C	ENSP00000357129.4:n.6990-91T>C
ENST00000481212.5:n.431-91T>C
ENST00000498708.1:n.422-91T>C
ENST00000614909.4:c.6990-91T>C	ENSP00000482595.1:n.6990-91T>C
NM_003126.2:c.6990-91T>C	NP_003117.2:n.6990-91T>C
XM_011509916.1:c.6990-91T>C	XP_011508218.1:n.6990-91T>C
XM_011509917.1:c.6972-91T>C	XP_011508219.1:n.6972-91T>C
NM_003126.3:c.6990-91T>C	NP_003117.2:n.6990-91T>C
XM_011509916.2:c.6990-91T>C	XP_011508218.1:n.6990-91T>C
XM_011509917.3:c.6972-91T>C	XP_011508219.1:n.6972-91T>C
NM_003126.4:c.6990-91T>C MANE Select	NP_003117.2:n.6990-91T>C