Canonical Allele Identifier: CA128236033

Gene: SIL1

Linked Data

• dbSNP Id: rs139922993
• gnomAD v3: 5-138946922-A-G
• gnomAD v4: 5-138946922-A-G
• MyVariant Identifiers: chr5:g.138282611A>G (hg19) ; chr5:g.138946922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138946922A>G , CM000667.2:g.138946922A>G	GRCh38
NC_000005.9:g.138282611A>G , CM000667.1:g.138282611A>G	GRCh37
NC_000005.8:g.138310510A>G	NCBI36
NG_008112.1:g.256455T>C
NG_008112.2:g.256455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394817.7:c.*195T>C MANE Select	ENSP00000378294.2:n.*195T>C
ENST00000265195.9:c.*195T>C	ENSP00000265195.5:n.*195T>C
ENST00000394817.6:c.*195T>C	ENSP00000378294.2:n.*195T>C
NM_001037633.1:c.*195T>C	NP_001032722.1:n.*195T>C
NM_022464.4:c.*195T>C	NP_071909.1:n.*195T>C
XM_011543570.2:c.*195T>C	XP_011541872.1:n.*195T>C
XM_024446164.1:c.*195T>C	XP_024301932.1:n.*195T>C
NM_022464.5:c.*195T>C MANE Select	NP_071909.1:n.*195T>C
NM_001037633.2:c.*195T>C	NP_001032722.1:n.*195T>C