Canonical Allele Identifier: CA2564050302
Gene: SPTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612698G>C , CM000663.2:g.158612698G>C GRCh38
NC_000001.10:g.158582488G>C , CM000663.1:g.158582488G>C GRCh37
NC_000001.9:g.156849112G>C NCBI36
NG_011474.1:g.79019C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7134+119C>G MANE Select ENSP00000495214.1:n.7134+119C>G
ENST00000368147.8:c.7134+119C>G ENSP00000357129.4:n.7134+119C>G
ENST00000614909.4:c.7134+119C>G ENSP00000482595.1:n.7134+119C>G
NM_003126.2:c.7134+119C>G NP_003117.2:n.7134+119C>G
XM_011509916.1:c.7134+119C>G XP_011508218.1:n.7134+119C>G
XM_011509917.1:c.7116+119C>G XP_011508219.1:n.7116+119C>G
NM_003126.3:c.7134+119C>G NP_003117.2:n.7134+119C>G
XM_011509916.2:c.7134+119C>G XP_011508218.1:n.7134+119C>G
XM_011509917.3:c.7116+119C>G XP_011508219.1:n.7116+119C>G
NM_003126.4:c.7134+119C>G MANE Select NP_003117.2:n.7134+119C>G