Canonical Allele Identifier: CA1417400172
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs1713136516
gnomAD v4: 3-165046774-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046774T>G , CM000665.2:g.165046774T>G GRCh38
NC_000003.11:g.164764562T>G , CM000665.1:g.164764562T>G GRCh37
NC_000003.10:g.166247256T>G NCBI36
NG_017043.1:g.36722A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1887+67A>C MANE Select ENSP00000264382.3:n.1887+67A>C
ENST00000264382.7:c.1887+67A>C ENSP00000264382.3:n.1887+67A>C
NM_001041.3:c.1887+67A>C NP_001032.2:n.1887+67A>C
XM_011513078.1:c.1788+67A>C XP_011511380.1:n.1788+67A>C
XM_011513078.2:c.1788+67A>C XP_011511380.1:n.1788+67A>C
NM_001041.4:c.1887+67A>C MANE Select NP_001032.2:n.1887+67A>C
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