Canonical Allele Identifier: CA1713374
Gene: ALMS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73449063G>A
GRCh37 chr2:g.73676190G>A
Revel Score:
ENST00000409009 0.265
ENST00000264448 0.265
ENST00000377715 0.265
gnomAD v2:
2:73676190 G / A
gnomAD v3:
2:73449063 G / A
gnomAD v4:
chr2-73449063-G-A
Joint Max Group AF 0.00055461 (AFR)
Genomes Max Group AF 0.00049901 (AFR)
Exomes Max Group AF 0.00049344 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73449063G>A , CM000664.2:g.73449063G>A GRCh38
NC_000002.11:g.73676190G>A , CM000664.1:g.73676190G>A GRCh37
NC_000002.10:g.73529698G>A NCBI36
NG_011690.1:g.68311G>A , LRG_741:g.68311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.2155G>A ENSP00000507671.1:p.Gly719Arg
ENST00000682801.1:c.2155G>A ENSP00000507862.1:p.Gly719Arg
ENST00000682859.1:c.2155G>A ENSP00000508222.1:p.Gly719Arg
ENST00000683791.1:c.685+16772G>A
ENST00000684548.1:c.2155G>A ENSP00000507421.1:p.Gly719Arg
ENST00000613296.6:c.2536G>A MANE Select ENSP00000482968.1:p.Gly846Arg
ENST00000484298.5:c.2410G>A ENSP00000478155.1:p.Gly804Arg
ENST00000613296.4:c.2536G>A ENSP00000482968.1:p.Gly846Arg
ENST00000614410.4:c.2536G>A ENSP00000479094.1:p.Gly846Arg
NM_015120.4:c.2539G>A , LRG_741t1:c.2539G>A NP_055935.4:p.Gly847Arg
NM_001378454.1:c.2536G>A MANE Select NP_001365383.1:p.Gly846Arg
Search 100 bp 5'
Search 100 bp 3'