Canonical Allele Identifier: CA1181930

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158617600C>T , CM000663.2:g.158617600C>T	GRCh38
NC_000001.10:g.158587390C>T , CM000663.1:g.158587390C>T	GRCh37
NC_000001.9:g.156854014C>T	NCBI36
NG_011474.1:g.74117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6549-12G>A MANE Select	ENSP00000495214.1:n.6549-12G>A
ENST00000368147.8:c.6549-12G>A	ENSP00000357129.4:n.6549-12G>A
ENST00000492934.1:n.64-12G>A
ENST00000614909.4:c.6549-12G>A	ENSP00000482595.1:n.6549-12G>A
NM_003126.2:c.6549-12G>A	NP_003117.2:n.6549-12G>A
XM_011509916.1:c.6549-12G>A	XP_011508218.1:n.6549-12G>A
XM_011509917.1:c.6531-12G>A	XP_011508219.1:n.6531-12G>A
NM_003126.3:c.6549-12G>A	NP_003117.2:n.6549-12G>A
XM_011509916.2:c.6549-12G>A	XP_011508218.1:n.6549-12G>A
XM_011509917.3:c.6531-12G>A	XP_011508219.1:n.6531-12G>A
NM_003126.4:c.6549-12G>A MANE Select	NP_003117.2:n.6549-12G>A