Canonical Allele Identifier: CA2675501367
Gene: SIL1 HGNC NCBI

Linked Data

gnomAD v4: 5-138946783-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946783T>G , CM000667.2:g.138946783T>G GRCh38
NC_000005.9:g.138282472T>G , CM000667.1:g.138282472T>G GRCh37
NC_000005.8:g.138310371T>G NCBI36
NG_008112.1:g.256594A>C
NG_008112.2:g.256594A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*334A>C MANE Select ENSP00000378294.2:n.*334A>C
ENST00000265195.9:c.*334A>C ENSP00000265195.5:n.*334A>C
ENST00000394817.6:c.*334A>C ENSP00000378294.2:n.*334A>C
NM_001037633.1:c.*334A>C NP_001032722.1:n.*334A>C
NM_022464.4:c.*334A>C NP_071909.1:n.*334A>C
XM_011543570.2:c.*334A>C XP_011541872.1:n.*334A>C
XM_024446164.1:c.*334A>C XP_024301932.1:n.*334A>C
NM_022464.5:c.*334A>C MANE Select NP_071909.1:n.*334A>C
NM_001037633.2:c.*334A>C NP_001032722.1:n.*334A>C
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