Canonical Allele Identifier: CA2668425533
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165069020-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165069020C>G , CM000665.2:g.165069020C>G GRCh38
NC_000003.11:g.164786808C>G , CM000665.1:g.164786808C>G GRCh37
NC_000003.10:g.166269502C>G NCBI36
NG_017043.1:g.14476G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.373+58G>C MANE Select ENSP00000264382.3:n.373+58G>C
ENST00000264382.7:c.373+58G>C ENSP00000264382.3:n.373+58G>C
ENST00000476593.1:c.*248+58G>C ENSP00000419450.1:n.*248+58G>C
NM_001041.3:c.373+58G>C NP_001032.2:n.373+58G>C
XM_011513078.1:c.274+58G>C XP_011511380.1:n.274+58G>C
XM_011513078.2:c.274+58G>C XP_011511380.1:n.274+58G>C
NM_001041.4:c.373+58G>C MANE Select NP_001032.2:n.373+58G>C
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