Canonical Allele Identifier: CA3432739
Gene: SIL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369449
ClinVar RCV Id: RCV000332600
dbSNP Id: rs773123084
ExAC: 5:138609435 G / A
gnomAD v2: 5-138609435-G-A
gnomAD v3: 5-139273746-G-A
gnomAD v4: 5-139273746-G-A
MyVariant Identifiers: chr5:g.138609435G>A (hg19) chr5:g.139273746G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139273746G>A , CM000667.2:g.139273746G>A GRCh38
NC_000005.9:g.138609435G>A , CM000667.1:g.138609435G>A GRCh37
NC_000005.8:g.138637334G>A NCBI36
NG_012846.1:g.4644G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000508744.1:n.466-92C>T
ENST00000509400.5:n.293+6822C>T
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