Canonical Allele Identifier: CA1143315652
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612642G= , CM000663.2:g.158612642G= GRCh38
NC_000001.10:g.158582432G= , CM000663.1:g.158582432G= GRCh37
NC_000001.9:g.156849056G= NCBI36
NG_011474.1:g.79075C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7134+175C= MANE Select ENSP00000495214.1:n.7134+175C=
ENST00000368147.8:c.7134+175C= ENSP00000357129.4:n.7134+175C=
ENST00000614909.4:c.7134+175C= ENSP00000482595.1:n.7134+175C=
NM_003126.2:c.7134+175C= NP_003117.2:n.7134+175C=
XM_011509916.1:c.7134+175C= XP_011508218.1:n.7134+175C=
XM_011509917.1:c.7116+175C= XP_011508219.1:n.7116+175C=
NM_003126.3:c.7134+175C= NP_003117.2:n.7134+175C=
XM_011509916.2:c.7134+175C= XP_011508218.1:n.7134+175C=
XM_011509917.3:c.7116+175C= XP_011508219.1:n.7116+175C=
NM_003126.4:c.7134+175C= MANE Select NP_003117.2:n.7134+175C=