Canonical Allele Identifier: CA355052197
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165046909-C-T
MyVariant Identifiers: chr3:g.164764697C>T (hg19) chr3:g.165046909C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046909C>T , CM000665.2:g.165046909C>T GRCh38
NC_000003.11:g.164764697C>T , CM000665.1:g.164764697C>T GRCh37
NC_000003.10:g.166247391C>T NCBI36
NG_017043.1:g.36587G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1819G>A MANE Select ENSP00000264382.3:p.Ala607Thr
ENST00000264382.7:c.1819G>A ENSP00000264382.3:p.Ala607Thr
NM_001041.3:c.1819G>A NP_001032.2:p.Ala607Thr
XM_011513078.1:c.1720G>A XP_011511380.1:p.Ala574Thr
XM_011513078.2:c.1720G>A XP_011511380.1:p.Ala574Thr
NM_001041.4:c.1819G>A MANE Select NP_001032.2:p.Ala607Thr
Search 100 bp 5'
Search 100 bp 3'