Canonical Allele Identifier: CA2675501356
Gene: SIL1 HGNC NCBI

Linked Data

gnomAD v4: 5-138946769-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946769C>G , CM000667.2:g.138946769C>G GRCh38
NC_000005.9:g.138282458C>G , CM000667.1:g.138282458C>G GRCh37
NC_000005.8:g.138310357C>G NCBI36
NG_008112.1:g.256608G>C
NG_008112.2:g.256608G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*348G>C MANE Select ENSP00000378294.2:n.*348G>C
ENST00000265195.9:c.*348G>C ENSP00000265195.5:n.*348G>C
ENST00000394817.6:c.*348G>C ENSP00000378294.2:n.*348G>C
NM_001037633.1:c.*348G>C NP_001032722.1:n.*348G>C
NM_022464.4:c.*348G>C NP_071909.1:n.*348G>C
XM_011543570.2:c.*348G>C XP_011541872.1:n.*348G>C
XM_024446164.1:c.*348G>C XP_024301932.1:n.*348G>C
NM_022464.5:c.*348G>C MANE Select NP_071909.1:n.*348G>C
NM_001037633.2:c.*348G>C NP_001032722.1:n.*348G>C
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