Canonical Allele Identifier: CA10622504
Gene: SIM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 354676
ClinVar RCV Id: RCV000295486
dbSNP Id: rs886060895
gnomAD v4: 6-100390551-T-A
MyVariant Identifiers: chr6:g.100838427T>A (hg19) chr6:g.100390551T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.100390551T>A , CM000668.2:g.100390551T>A GRCh38
NC_000006.11:g.100838427T>A , CM000668.1:g.100838427T>A GRCh37
NC_000006.10:g.100945148T>A NCBI36
NG_008230.1:g.78125A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369208.8:c.2111A>T MANE Select ENSP00000358210.4:p.Gln704Leu
ENST00000262901.4:c.2111A>T ENSP00000262901.4:p.Gln704Leu
ENST00000369208.7:c.2111A>T ENSP00000358210.3:p.Gln704Leu
NM_005068.2:c.2111A>T NP_005059.2:p.Gln704Leu
XM_005267100.2:c.2111A>T XP_005267157.1:p.Gln704Leu
XM_017011197.1:c.2111A>T XP_016866686.1:p.Gln704Leu
NM_001374769.1:c.2111A>T NP_001361698.1:p.Gln704Leu
NM_005068.3:c.2111A>T MANE Select NP_005059.2:p.Gln704Leu
Search 100 bp 5'
Search 100 bp 3'