Canonical Allele Identifier: CA1008229080
Gene: SPTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1571365855
gnomAD v3: 1-158612731-T-C
gnomAD v4: 1-158612731-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612731T>C , CM000663.2:g.158612731T>C GRCh38
NC_000001.10:g.158582521T>C , CM000663.1:g.158582521T>C GRCh37
NC_000001.9:g.156849145T>C NCBI36
NG_011474.1:g.78986A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.7134+86A>G MANE Select ENSP00000495214.1:n.7134+86A>G
ENST00000368147.8:c.7134+86A>G ENSP00000357129.4:n.7134+86A>G
ENST00000614909.4:c.7134+86A>G ENSP00000482595.1:n.7134+86A>G
NM_003126.2:c.7134+86A>G NP_003117.2:n.7134+86A>G
XM_011509916.1:c.7134+86A>G XP_011508218.1:n.7134+86A>G
XM_011509917.1:c.7116+86A>G XP_011508219.1:n.7116+86A>G
NM_003126.3:c.7134+86A>G NP_003117.2:n.7134+86A>G
XM_011509916.2:c.7134+86A>G XP_011508218.1:n.7134+86A>G
XM_011509917.3:c.7116+86A>G XP_011508219.1:n.7116+86A>G
NM_003126.4:c.7134+86A>G MANE Select NP_003117.2:n.7134+86A>G
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