Canonical Allele Identifier: CA2675501366
Gene: SIL1 HGNC NCBI

Linked Data

gnomAD v4: 5-138946782-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946782A>C , CM000667.2:g.138946782A>C GRCh38
NC_000005.9:g.138282471A>C , CM000667.1:g.138282471A>C GRCh37
NC_000005.8:g.138310370A>C NCBI36
NG_008112.1:g.256595T>G
NG_008112.2:g.256595T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*335T>G MANE Select ENSP00000378294.2:n.*335T>G
ENST00000265195.9:c.*335T>G ENSP00000265195.5:n.*335T>G
ENST00000394817.6:c.*335T>G ENSP00000378294.2:n.*335T>G
NM_001037633.1:c.*335T>G NP_001032722.1:n.*335T>G
NM_022464.4:c.*335T>G NP_071909.1:n.*335T>G
XM_011543570.2:c.*335T>G XP_011541872.1:n.*335T>G
XM_024446164.1:c.*335T>G XP_024301932.1:n.*335T>G
NM_022464.5:c.*335T>G MANE Select NP_071909.1:n.*335T>G
NM_001037633.2:c.*335T>G NP_001032722.1:n.*335T>G
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