Canonical Allele Identifier: CA1714399
Gene: ALMS1 HGNC NCBI

Linked Data

dbSNP Id: rs745692402
gnomAD v2: 2-73717176-A-C
gnomAD v4: 2-73490049-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73490049A>C , CM000664.2:g.73490049A>C GRCh38
NC_000002.11:g.73717176A>C , CM000664.1:g.73717176A>C GRCh37
NC_000002.10:g.73570684A>C NCBI36
NG_011690.1:g.109297A>C , LRG_741:g.109297A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.7709A>C ENSP00000507671.1:p.His2570Pro
ENST00000682801.1:c.7709A>C ENSP00000507862.1:p.His2570Pro
ENST00000682859.1:c.7709A>C ENSP00000508222.1:p.His2570Pro
ENST00000683791.1:c.1101A>C
ENST00000684460.1:c.5161A>C
ENST00000684548.1:c.7709A>C ENSP00000507421.1:p.His2570Pro
ENST00000684590.1:c.2156A>C ENSP00000507376.1:p.His719Pro
ENST00000684656.1:c.5161A>C
ENST00000613296.6:c.8090A>C MANE Select ENSP00000482968.1:p.His2697Pro
ENST00000651434.1:c.896-29726A>C
ENST00000423048.5:c.2921A>C ENSP00000399833.1:p.His974Pro
ENST00000484298.5:c.7964A>C ENSP00000478155.1:p.His2655Pro
ENST00000613296.4:c.8090A>C ENSP00000482968.1:p.His2697Pro
ENST00000614410.4:c.8090A>C ENSP00000479094.1:p.His2697Pro
ENST00000620466.4:n.1893A>C
NM_015120.4:c.8093A>C , LRG_741t1:c.8093A>C NP_055935.4:p.His2698Pro
NM_001378454.1:c.8090A>C MANE Select NP_001365383.1:p.His2697Pro