Canonical Allele Identifier: CA1181833

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158614301A>G , CM000663.2:g.158614301A>G	GRCh38
NC_000001.10:g.158584091A>G , CM000663.1:g.158584091A>G	GRCh37
NC_000001.9:g.156850715A>G	NCBI36
NG_011474.1:g.77416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6794T>C MANE Select	ENSP00000495214.1:p.Ile2265Thr
ENST00000368147.8:c.6794T>C	ENSP00000357129.4:p.Ile2265Thr
ENST00000481212.5:n.235T>C
ENST00000498708.1:n.226T>C
ENST00000614909.4:c.6794T>C	ENSP00000482595.1:p.Ile2265Thr
NM_003126.2:c.6794T>C	NP_003117.2:p.Ile2265Thr
XM_011509916.1:c.6794T>C	XP_011508218.1:p.Ile2265Thr
XM_011509917.1:c.6776T>C	XP_011508219.1:p.Ile2259Thr
NM_003126.3:c.6794T>C	NP_003117.2:p.Ile2265Thr
XM_011509916.2:c.6794T>C	XP_011508218.1:p.Ile2265Thr
XM_011509917.3:c.6776T>C	XP_011508219.1:p.Ile2259Thr
NM_003126.4:c.6794T>C MANE Select	NP_003117.2:p.Ile2265Thr