Canonical Allele Identifier: CA1714555
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 506219
dbSNP Id: rs574785830
gnomAD v2: 2-73717923-A-G
gnomAD v3: 2-73490796-A-G
gnomAD v4: 2-73490796-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73490796A>G , CM000664.2:g.73490796A>G GRCh38
NC_000002.11:g.73717923A>G , CM000664.1:g.73717923A>G GRCh37
NC_000002.10:g.73571431A>G NCBI36
NG_011690.1:g.110044A>G , LRG_741:g.110044A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.8456A>G ENSP00000507671.1:p.His2819Arg
ENST00000682801.1:c.8456A>G ENSP00000507862.1:p.His2819Arg
ENST00000682859.1:c.8456A>G ENSP00000508222.1:p.His2819Arg
ENST00000683791.1:c.1848A>G
ENST00000684460.1:c.5908A>G
ENST00000684548.1:c.8456A>G ENSP00000507421.1:p.His2819Arg
ENST00000684590.1:c.2903A>G ENSP00000507376.1:p.His968Arg
ENST00000684656.1:c.5908A>G
ENST00000613296.6:c.8837A>G MANE Select ENSP00000482968.1:p.His2946Arg
ENST00000651434.1:c.896-28979A>G
ENST00000423048.5:c.3030+638A>G ENSP00000399833.1:n.3030+638A>G
ENST00000484298.5:c.8711A>G ENSP00000478155.1:p.His2904Arg
ENST00000613296.4:c.8837A>G ENSP00000482968.1:p.His2946Arg
ENST00000614410.4:c.8837A>G ENSP00000479094.1:p.His2946Arg
ENST00000620466.4:n.2640A>G
NM_015120.4:c.8840A>G , LRG_741t1:c.8840A>G NP_055935.4:p.His2947Arg
NM_001378454.1:c.8837A>G MANE Select NP_001365383.1:p.His2946Arg