Canonical Allele Identifier: CA10622494
Gene: SIM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 354661
ClinVar RCV Id: RCV000405136
dbSNP Id: rs13201004
gnomAD v2: 6-100836784-C-A
gnomAD v3: 6-100388908-C-A
gnomAD v4: 6-100388908-C-A
MyVariant Identifiers: chr6:g.100836784C>A (hg19) chr6:g.100388908C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.100388908C>A , CM000668.2:g.100388908C>A GRCh38
NC_000006.11:g.100836784C>A , CM000668.1:g.100836784C>A GRCh37
NC_000006.10:g.100943505C>A NCBI36
NG_008230.1:g.79768G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369208.8:c.*1453G>T MANE Select ENSP00000358210.4:n.*1453G>T
ENST00000262901.4:c.*1453G>T ENSP00000262901.4:n.*1453G>T
ENST00000369208.7:c.*1453G>T ENSP00000358210.3:n.*1453G>T
NM_005068.2:c.*1453G>T NP_005059.2:n.*1453G>T
XM_005267100.2:c.*1453G>T XP_005267157.1:n.*1453G>T
XM_017011197.1:c.*1453G>T XP_016866686.1:n.*1453G>T
NM_001374769.1:c.*1453G>T NP_001361698.1:n.*1453G>T
NM_005068.3:c.*1453G>T MANE Select NP_005059.2:n.*1453G>T
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