Canonical Allele Identifier: CA1713262
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393370
dbSNP Id: rs115444326
gnomAD v2: 2-73675692-C-G
gnomAD v3: 2-73448565-C-G
gnomAD v4: 2-73448565-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73448565C>G , CM000664.2:g.73448565C>G GRCh38
NC_000002.11:g.73675692C>G , CM000664.1:g.73675692C>G GRCh37
NC_000002.10:g.73529200C>G NCBI36
NG_011690.1:g.67813C>G , LRG_741:g.67813C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.1657C>G ENSP00000507671.1:p.Arg553Gly
ENST00000682801.1:c.1657C>G ENSP00000507862.1:p.Arg553Gly
ENST00000682859.1:c.1657C>G ENSP00000508222.1:p.Arg553Gly
ENST00000683791.1:c.685+16274C>G
ENST00000684548.1:c.1657C>G ENSP00000507421.1:p.Arg553Gly
ENST00000613296.6:c.2038C>G MANE Select ENSP00000482968.1:p.Arg680Gly
ENST00000484298.5:c.1912C>G ENSP00000478155.1:p.Arg638Gly
ENST00000613296.4:c.2038C>G ENSP00000482968.1:p.Arg680Gly
ENST00000614410.4:c.2038C>G ENSP00000479094.1:p.Arg680Gly
NM_015120.4:c.2041C>G , LRG_741t1:c.2041C>G NP_055935.4:p.Arg681Gly
NM_001378454.1:c.2038C>G MANE Select NP_001365383.1:p.Arg680Gly