Canonical Allele Identifier: CA349169
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221028
dbSNP Id: rs45501594
gnomAD v2: 2-73799632-C-G
gnomAD v3: 2-73572505-C-G
gnomAD v4: 2-73572505-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572505C>G , CM000664.2:g.73572505C>G GRCh38
NC_000002.11:g.73799632C>G , CM000664.1:g.73799632C>G GRCh37
NC_000002.10:g.73653140C>G NCBI36
NG_011690.1:g.191753C>G , LRG_741:g.191753C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682565.1:c.10247C>G ENSP00000507671.1:p.Thr3416Ser
ENST00000682801.1:c.10247C>G ENSP00000507862.1:p.Thr3416Ser
ENST00000682859.1:c.10247C>G ENSP00000508222.1:p.Thr3416Ser
ENST00000683791.1:c.3333C>G
ENST00000684460.1:c.7528C>G
ENST00000684548.1:c.10247C>G ENSP00000507421.1:p.Thr3416Ser
ENST00000684590.1:c.4694C>G ENSP00000507376.1:p.Thr1565Ser
ENST00000684656.1:c.7573C>G
ENST00000613296.6:c.10628C>G MANE Select ENSP00000482968.1:p.Thr3543Ser
ENST00000651057.1:c.782C>G ENSP00000498504.1:p.Thr261Ser
ENST00000651434.1:c.1984C>G
ENST00000651750.1:c.16C>G
ENST00000652487.1:c.1725C>G
ENST00000423048.5:c.4119C>G ENSP00000399833.1:n.4119C>G
ENST00000484298.5:c.10502C>G ENSP00000478155.1:p.Thr3501Ser
ENST00000613296.4:c.10628C>G ENSP00000482968.1:p.Thr3543Ser
ENST00000614410.4:c.10628C>G ENSP00000479094.1:p.Thr3543Ser
ENST00000620466.4:n.4431C>G
NM_015120.4:c.10631C>G , LRG_741t1:c.10631C>G NP_055935.4:p.Thr3544Ser
NM_001378454.1:c.10628C>G MANE Select NP_001365383.1:p.Thr3543Ser