Canonical Allele Identifier: CA1713431
Gene: ALMS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73449420T>C
GRCh37 chr2:g.73676547T>C
Revel Score:
ENST00000409009 0.023
ENST00000264448 0.023
ENST00000377715 0.023
gnomAD v2:
2:73676547 T / C
gnomAD v3:
2:73449420 T / C
gnomAD v4:
chr2-73449420-T-C
Joint Max Group AF 0.00023147 (NFE)
Genomes Max Group AF 0.00021796 (NFE)
Exomes Max Group AF 0.00022676 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73449420T>C , CM000664.2:g.73449420T>C GRCh38
NC_000002.11:g.73676547T>C , CM000664.1:g.73676547T>C GRCh37
NC_000002.10:g.73530055T>C NCBI36
NG_011690.1:g.68668T>C , LRG_741:g.68668T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.2512T>C ENSP00000507671.1:p.Tyr838His
ENST00000682801.1:c.2512T>C ENSP00000507862.1:p.Tyr838His
ENST00000682859.1:c.2512T>C ENSP00000508222.1:p.Tyr838His
ENST00000683791.1:c.685+17129T>C
ENST00000684548.1:c.2512T>C ENSP00000507421.1:p.Tyr838His
ENST00000613296.6:c.2893T>C MANE Select ENSP00000482968.1:p.Tyr965His
ENST00000484298.5:c.2767T>C ENSP00000478155.1:p.Tyr923His
ENST00000613296.4:c.2893T>C ENSP00000482968.1:p.Tyr965His
ENST00000614410.4:c.2893T>C ENSP00000479094.1:p.Tyr965His
NM_015120.4:c.2896T>C , LRG_741t1:c.2896T>C NP_055935.4:p.Tyr966His
NM_001378454.1:c.2893T>C MANE Select NP_001365383.1:p.Tyr965His
Search 100 bp 5'
Search 100 bp 3'