Canonical Allele Identifier: CA16617007
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421401
dbSNP Id: rs1064795113

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612819G>A , CM000663.2:g.158612819G>A GRCh38
NC_000001.10:g.158582609G>A , CM000663.1:g.158582609G>A GRCh37
NC_000001.9:g.156849233G>A NCBI36
NG_011474.1:g.78898C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.7132C>T MANE Select ENSP00000495214.1:p.Gln2378Ter
ENST00000368147.8:c.7132C>T ENSP00000357129.4:p.Gln2378Ter
ENST00000481212.5:n.573C>T
ENST00000498708.1:n.564C>T
ENST00000614909.4:c.7132C>T ENSP00000482595.1:p.Gln2378Ter
NM_003126.2:c.7132C>T NP_003117.2:p.Gln2378Ter
XM_011509916.1:c.7132C>T XP_011508218.1:p.Gln2378Ter
XM_011509917.1:c.7114C>T XP_011508219.1:p.Gln2372Ter
NM_003126.3:c.7132C>T NP_003117.2:p.Gln2378Ter
XM_011509916.2:c.7132C>T XP_011508218.1:p.Gln2378Ter
XM_011509917.3:c.7114C>T XP_011508219.1:p.Gln2372Ter
NM_003126.4:c.7132C>T MANE Select NP_003117.2:p.Gln2378Ter