Canonical Allele Identifier: CA347267701
Gene: ALMS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73490118A>C , CM000664.2:g.73490118A>C GRCh38
NC_000002.11:g.73717245A>C , CM000664.1:g.73717245A>C GRCh37
NC_000002.10:g.73570753A>C NCBI36
NG_011690.1:g.109366A>C , LRG_741:g.109366A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.7778A>C ENSP00000507671.1:p.His2593Pro
ENST00000682801.1:c.7778A>C ENSP00000507862.1:p.His2593Pro
ENST00000682859.1:c.7778A>C ENSP00000508222.1:p.His2593Pro
ENST00000683791.1:c.1170A>C
ENST00000684460.1:c.5230A>C
ENST00000684548.1:c.7778A>C ENSP00000507421.1:p.His2593Pro
ENST00000684590.1:c.2225A>C ENSP00000507376.1:p.His742Pro
ENST00000684656.1:c.5230A>C
ENST00000613296.6:c.8159A>C MANE Select ENSP00000482968.1:p.His2720Pro
ENST00000651434.1:c.896-29657A>C
ENST00000423048.5:c.2990A>C ENSP00000399833.1:p.His997Pro
ENST00000484298.5:c.8033A>C ENSP00000478155.1:p.His2678Pro
ENST00000613296.4:c.8159A>C ENSP00000482968.1:p.His2720Pro
ENST00000614410.4:c.8159A>C ENSP00000479094.1:p.His2720Pro
ENST00000620466.4:n.1962A>C
NM_015120.4:c.8162A>C , LRG_741t1:c.8162A>C NP_055935.4:p.His2721Pro
NM_001378454.1:c.8159A>C MANE Select NP_001365383.1:p.His2720Pro