Canonical Allele Identifier: CA128235948
Gene: SIL1 HGNC NCBI

Linked Data

dbSNP Id: rs995957154
gnomAD v3: 5-138946730-A-T
gnomAD v4: 5-138946730-A-T
MyVariant Identifiers: chr5:g.138282419A>T (hg19) chr5:g.138946730A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138946730A>T , CM000667.2:g.138946730A>T GRCh38
NC_000005.9:g.138282419A>T , CM000667.1:g.138282419A>T GRCh37
NC_000005.8:g.138310318A>T NCBI36
NG_008112.1:g.256647T>A
NG_008112.2:g.256647T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394817.7:c.*387T>A MANE Select ENSP00000378294.2:n.*387T>A
ENST00000394817.6:c.*387T>A ENSP00000378294.2:n.*387T>A
NM_001037633.1:c.*387T>A NP_001032722.1:n.*387T>A
NM_022464.4:c.*387T>A NP_071909.1:n.*387T>A
XM_011543570.2:c.*387T>A XP_011541872.1:n.*387T>A
XM_024446164.1:c.*387T>A XP_024301932.1:n.*387T>A
NM_022464.5:c.*387T>A MANE Select NP_071909.1:n.*387T>A
NM_001037633.2:c.*387T>A NP_001032722.1:n.*387T>A
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