Canonical Allele Identifier: CA2577961198
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165046778-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046778G>T , CM000665.2:g.165046778G>T GRCh38
NC_000003.11:g.164764566G>T , CM000665.1:g.164764566G>T GRCh37
NC_000003.10:g.166247260G>T NCBI36
NG_017043.1:g.36718C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1887+63C>A MANE Select ENSP00000264382.3:n.1887+63C>A
ENST00000264382.7:c.1887+63C>A ENSP00000264382.3:n.1887+63C>A
NM_001041.3:c.1887+63C>A NP_001032.2:n.1887+63C>A
XM_011513078.1:c.1788+63C>A XP_011511380.1:n.1788+63C>A
XM_011513078.2:c.1788+63C>A XP_011511380.1:n.1788+63C>A
NM_001041.4:c.1887+63C>A MANE Select NP_001032.2:n.1887+63C>A
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