Canonical Allele Identifier: CA526546862
Gene: SPTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1364624616
gnomAD v2: 1-158582517-T-G
gnomAD v3: 1-158612727-T-G
gnomAD v4: 1-158612727-T-G
MyVariant Identifiers: chr1:g.158582517T>G (hg19) chr1:g.158612727T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612727T>G , CM000663.2:g.158612727T>G GRCh38
NC_000001.10:g.158582517T>G , CM000663.1:g.158582517T>G GRCh37
NC_000001.9:g.156849141T>G NCBI36
NG_011474.1:g.78990A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.7134+90A>C MANE Select ENSP00000495214.1:n.7134+90A>C
ENST00000368147.8:c.7134+90A>C ENSP00000357129.4:n.7134+90A>C
ENST00000614909.4:c.7134+90A>C ENSP00000482595.1:n.7134+90A>C
NM_003126.2:c.7134+90A>C NP_003117.2:n.7134+90A>C
XM_011509916.1:c.7134+90A>C XP_011508218.1:n.7134+90A>C
XM_011509917.1:c.7116+90A>C XP_011508219.1:n.7116+90A>C
NM_003126.3:c.7134+90A>C NP_003117.2:n.7134+90A>C
XM_011509916.2:c.7134+90A>C XP_011508218.1:n.7134+90A>C
XM_011509917.3:c.7116+90A>C XP_011508219.1:n.7116+90A>C
NM_003126.4:c.7134+90A>C MANE Select NP_003117.2:n.7134+90A>C
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