Canonical Allele Identifier: CA347287004
Gene: ALMS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572907A>T , CM000664.2:g.73572907A>T GRCh38
NC_000002.11:g.73800034A>T , CM000664.1:g.73800034A>T GRCh37
NC_000002.10:g.73653542A>T NCBI36
NG_011690.1:g.192155A>T , LRG_741:g.192155A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.10649A>T ENSP00000507671.1:p.Lys3550Met
ENST00000682801.1:c.10649A>T ENSP00000507862.1:p.Lys3550Met
ENST00000682859.1:c.10649A>T ENSP00000508222.1:p.Lys3550Met
ENST00000683791.1:c.3735A>T
ENST00000684460.1:c.7930A>T
ENST00000684548.1:c.10649A>T ENSP00000507421.1:p.Lys3550Met
ENST00000684590.1:c.5096A>T ENSP00000507376.1:p.Lys1699Met
ENST00000684656.1:c.7975A>T
ENST00000613296.6:c.11030A>T MANE Select ENSP00000482968.1:p.Lys3677Met
ENST00000651057.1:c.1184A>T ENSP00000498504.1:p.Lys395Met
ENST00000651434.1:c.2386A>T
ENST00000651750.1:c.418A>T
ENST00000652487.1:c.2127A>T
ENST00000423048.5:c.4521A>T ENSP00000399833.1:n.4521A>T
ENST00000484298.5:c.10904A>T ENSP00000478155.1:p.Lys3635Met
ENST00000613296.4:c.11030A>T ENSP00000482968.1:p.Lys3677Met
ENST00000614410.4:c.11030A>T ENSP00000479094.1:p.Lys3677Met
ENST00000620466.4:n.4833A>T
NM_015120.4:c.11033A>T , LRG_741t1:c.11033A>T NP_055935.4:p.Lys3678Met
NM_001378454.1:c.11030A>T MANE Select NP_001365383.1:p.Lys3677Met