Canonical Allele Identifier: CA547856247
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs1263554994
gnomAD v2: 3-164714571-T-A
gnomAD v4: 3-164996783-T-A
MyVariant Identifiers: chr3:g.164714571T>A (hg19) chr3:g.164996783T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996783T>A , CM000665.2:g.164996783T>A GRCh38
NC_000003.11:g.164714571T>A , CM000665.1:g.164714571T>A GRCh37
NC_000003.10:g.166197265T>A NCBI36
NG_017043.1:g.86713A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4541-11A>T MANE Select ENSP00000264382.3:n.4541-11A>T
ENST00000264382.7:c.4541-11A>T ENSP00000264382.3:n.4541-11A>T
NM_001041.3:c.4541-11A>T NP_001032.2:n.4541-11A>T
XM_011513078.1:c.4442-11A>T XP_011511380.1:n.4442-11A>T
XM_011513078.2:c.4442-11A>T XP_011511380.1:n.4442-11A>T
NM_001041.4:c.4541-11A>T MANE Select NP_001032.2:n.4541-11A>T
Search 100 bp 5'
Search 100 bp 3'