Canonical Allele Identifier: CA2577961206
Gene: SI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046806G>T , CM000665.2:g.165046806G>T GRCh38
NC_000003.11:g.164764594G>T , CM000665.1:g.164764594G>T GRCh37
NC_000003.10:g.166247288G>T NCBI36
NG_017043.1:g.36690C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1887+35C>A MANE Select ENSP00000264382.3:n.1887+35C>A
ENST00000264382.7:c.1887+35C>A ENSP00000264382.3:n.1887+35C>A
NM_001041.3:c.1887+35C>A NP_001032.2:n.1887+35C>A
XM_011513078.1:c.1788+35C>A XP_011511380.1:n.1788+35C>A
XM_011513078.2:c.1788+35C>A XP_011511380.1:n.1788+35C>A
NM_001041.4:c.1887+35C>A MANE Select NP_001032.2:n.1887+35C>A