Canonical Allele Identifier: CA1139843288

Gene: SPTA1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6794T= MANE Select	ENSP00000495214.1:p.Ile2265=
ENST00000368147.8:c.6794T=	ENSP00000357129.4:p.Ile2265=
ENST00000481212.5:n.235T=
ENST00000498708.1:n.226T=
ENST00000614909.4:c.6794T=	ENSP00000482595.1:p.Ile2265=
NM_003126.2:c.6794T=	NP_003117.2:p.Ile2265=
XM_011509916.1:c.6794T=	XP_011508218.1:p.Ile2265=
XM_011509917.1:c.6776T=	XP_011508219.1:p.Ile2259=
NM_003126.3:c.6794T=	NP_003117.2:p.Ile2265=
XM_011509916.2:c.6794T=	XP_011508218.1:p.Ile2265=
XM_011509917.3:c.6776T=	XP_011508219.1:p.Ile2259=
NM_003126.4:c.6794T= MANE Select	NP_003117.2:p.Ile2265=