Canonical Allele Identifier: CA10622931
Gene: SIL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 351107
ClinVar RCV Id: RCV000395176
dbSNP Id: rs540802283
gnomAD v3: 5-139198356-G-A
gnomAD v4: 5-139198356-G-A
MyVariant Identifiers: chr5:g.138534045G>A (hg19) chr5:g.139198356G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139198356G>A , CM000667.2:g.139198356G>A GRCh38
NC_000005.9:g.138534045G>A , CM000667.1:g.138534045G>A GRCh37
NC_000005.8:g.138561944G>A NCBI36
NG_008112.1:g.5021C>T
NG_008112.2:g.5021C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.-98C>T MANE Select ENSP00000378294.2:n.-98C>T
ENST00000394817.6:c.-98C>T ENSP00000378294.2:n.-98C>T
ENST00000509400.5:n.294-70503C>T
NM_001037633.1:c.-186C>T NP_001032722.1:n.-186C>T
NM_022464.4:c.-98C>T NP_071909.1:n.-98C>T
NM_022464.5:c.-98C>T MANE Select NP_071909.1:n.-98C>T
NM_001037633.2:c.-186C>T NP_001032722.1:n.-186C>T
Search 100 bp 5'
Search 100 bp 3'