Canonical Allele Identifier: CA1715085
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 390222
dbSNP Id: rs142558799
gnomAD v2: 2-73799896-G-A
gnomAD v3: 2-73572769-G-A
gnomAD v4: 2-73572769-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572769G>A , CM000664.2:g.73572769G>A GRCh38
NC_000002.11:g.73799896G>A , CM000664.1:g.73799896G>A GRCh37
NC_000002.10:g.73653404G>A NCBI36
NG_011690.1:g.192017G>A , LRG_741:g.192017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.10511G>A ENSP00000507671.1:p.Arg3504His
ENST00000682801.1:c.10511G>A ENSP00000507862.1:p.Arg3504His
ENST00000682859.1:c.10511G>A ENSP00000508222.1:p.Arg3504His
ENST00000683791.1:c.3597G>A
ENST00000684460.1:c.7792G>A
ENST00000684548.1:c.10511G>A ENSP00000507421.1:p.Arg3504His
ENST00000684590.1:c.4958G>A ENSP00000507376.1:p.Arg1653His
ENST00000684656.1:c.7837G>A
ENST00000613296.6:c.10892G>A MANE Select ENSP00000482968.1:p.Arg3631His
ENST00000651057.1:c.1046G>A ENSP00000498504.1:p.Arg349His
ENST00000651434.1:c.2248G>A
ENST00000651750.1:c.280G>A
ENST00000652487.1:c.1989G>A
ENST00000423048.5:c.4383G>A ENSP00000399833.1:n.4383G>A
ENST00000484298.5:c.10766G>A ENSP00000478155.1:p.Arg3589His
ENST00000613296.4:c.10892G>A ENSP00000482968.1:p.Arg3631His
ENST00000614410.4:c.10892G>A ENSP00000479094.1:p.Arg3631His
ENST00000620466.4:n.4695G>A
NM_015120.4:c.10895G>A , LRG_741t1:c.10895G>A NP_055935.4:p.Arg3632His
NM_001378454.1:c.10892G>A MANE Select NP_001365383.1:p.Arg3631His