Canonical Allele Identifier: CA1713175
Gene: ALMS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73447978G>A
GRCh37 chr2:g.73675108G>A
Revel Score:
ENST00000409009 0.169
ENST00000264448 0.169
ENST00000377715 0.169
gnomAD v2:
2:73675108 G / A
gnomAD v3:
2:73447978 G / A
gnomAD v4:
chr2-73447978-G-A
Joint Max Group AF 0.00071195 (AFR)
Genomes Max Group AF 0.0006671 (AFR)
Exomes Max Group AF 0.00062141 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73447978G>A , CM000664.2:g.73447978G>A GRCh38
NC_000002.11:g.73675108G>A , CM000664.1:g.73675108G>A GRCh37
NC_000002.10:g.73528616G>A NCBI36
NG_011690.1:g.67226G>A , LRG_741:g.67226G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.1070G>A ENSP00000507671.1:p.Gly357Asp
ENST00000682801.1:c.1070G>A ENSP00000507862.1:p.Gly357Asp
ENST00000682859.1:c.1070G>A ENSP00000508222.1:p.Gly357Asp
ENST00000683791.1:c.685+15687G>A
ENST00000684548.1:c.1070G>A ENSP00000507421.1:p.Gly357Asp
ENST00000613296.6:c.1451G>A MANE Select ENSP00000482968.1:p.Gly484Asp
ENST00000484298.5:c.1325G>A ENSP00000478155.1:p.Gly442Asp
ENST00000613296.4:c.1451G>A ENSP00000482968.1:p.Gly484Asp
ENST00000614410.4:c.1451G>A ENSP00000479094.1:p.Gly484Asp
NM_015120.4:c.1454G>A , LRG_741t1:c.1454G>A NP_055935.4:p.Gly485Asp
NM_001378454.1:c.1451G>A MANE Select NP_001365383.1:p.Gly484Asp
Search 100 bp 5'
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