Canonical Allele Identifier: CA1201536986

Gene: SPTA1

Linked Data

• dbSNP Id: rs1557917502
• gnomAD v4: 1-158613035-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613035T>G , CM000663.2:g.158613035T>G	GRCh38
NC_000001.10:g.158582825T>G , CM000663.1:g.158582825T>G	GRCh37
NC_000001.9:g.156849449T>G	NCBI36
NG_011474.1:g.78682A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-74A>C MANE Select	ENSP00000495214.1:n.6990-74A>C
ENST00000368147.8:c.6990-74A>C	ENSP00000357129.4:n.6990-74A>C
ENST00000481212.5:n.431-74A>C
ENST00000498708.1:n.422-74A>C
ENST00000614909.4:c.6990-74A>C	ENSP00000482595.1:n.6990-74A>C
NM_003126.2:c.6990-74A>C	NP_003117.2:n.6990-74A>C
XM_011509916.1:c.6990-74A>C	XP_011508218.1:n.6990-74A>C
XM_011509917.1:c.6972-74A>C	XP_011508219.1:n.6972-74A>C
NM_003126.3:c.6990-74A>C	NP_003117.2:n.6990-74A>C
XM_011509916.2:c.6990-74A>C	XP_011508218.1:n.6990-74A>C
XM_011509917.3:c.6972-74A>C	XP_011508219.1:n.6972-74A>C
NM_003126.4:c.6990-74A>C MANE Select	NP_003117.2:n.6990-74A>C