Canonical Allele Identifier: CA2648555587
Gene: SPTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-158612721-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612721A>G , CM000663.2:g.158612721A>G GRCh38
NC_000001.10:g.158582511A>G , CM000663.1:g.158582511A>G GRCh37
NC_000001.9:g.156849135A>G NCBI36
NG_011474.1:g.78996T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.7134+96T>C MANE Select ENSP00000495214.1:n.7134+96T>C
ENST00000368147.8:c.7134+96T>C ENSP00000357129.4:n.7134+96T>C
ENST00000614909.4:c.7134+96T>C ENSP00000482595.1:n.7134+96T>C
NM_003126.2:c.7134+96T>C NP_003117.2:n.7134+96T>C
XM_011509916.1:c.7134+96T>C XP_011508218.1:n.7134+96T>C
XM_011509917.1:c.7116+96T>C XP_011508219.1:n.7116+96T>C
NM_003126.3:c.7134+96T>C NP_003117.2:n.7134+96T>C
XM_011509916.2:c.7134+96T>C XP_011508218.1:n.7134+96T>C
XM_011509917.3:c.7116+96T>C XP_011508219.1:n.7116+96T>C
NM_003126.4:c.7134+96T>C MANE Select NP_003117.2:n.7134+96T>C
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