Canonical Allele Identifier: CA128235952
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs144756476
gnomAD v3: 5-138946744-A-G
gnomAD v4: 5-138946744-A-G
MyVariant Identifiers: chr5:g.138282433A>G (hg19) chr5:g.138946744A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946744A>G , CM000667.2:g.138946744A>G GRCh38
NC_000005.9:g.138282433A>G , CM000667.1:g.138282433A>G GRCh37
NC_000005.8:g.138310332A>G NCBI36
NG_008112.1:g.256633T>C
NG_008112.2:g.256633T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*373T>C MANE Select ENSP00000378294.2:n.*373T>C
ENST00000394817.6:c.*373T>C ENSP00000378294.2:n.*373T>C
NM_001037633.1:c.*373T>C NP_001032722.1:n.*373T>C
NM_022464.4:c.*373T>C NP_071909.1:n.*373T>C
XM_011543570.2:c.*373T>C XP_011541872.1:n.*373T>C
XM_024446164.1:c.*373T>C XP_024301932.1:n.*373T>C
NM_022464.5:c.*373T>C MANE Select NP_071909.1:n.*373T>C
NM_001037633.2:c.*373T>C NP_001032722.1:n.*373T>C
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