Canonical Allele Identifier: CA1715345

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73600876A>G , CM000664.2:g.73600876A>G	GRCh38
NC_000002.11:g.73828003A>G , CM000664.1:g.73828003A>G	GRCh37
NC_000002.10:g.73681511A>G	NCBI36
NG_011690.1:g.220124A>G , LRG_741:g.220124A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11867A>G MANE Select	NP_001365383.1:p.His3956Arg
ENST00000613296.6:c.11867A>G MANE Select	ENSP00000482968.1:p.His3956Arg
NM_015120.4:c.11870A>G , LRG_741t1:c.11870A>G	NP_055935.4:p.His3957Arg
ENST00000464408.3:n.42A>G
ENST00000484298.5:c.11741A>G	ENSP00000478155.1:p.His3914Arg
ENST00000613296.4:c.11867A>G	ENSP00000482968.1:p.His3956Arg
ENST00000620466.4:n.5670A>G
ENST00000651057.1:c.2021A>G	ENSP00000498504.1:p.His674Arg
ENST00000651434.1:c.3223A>G
ENST00000651750.1:c.1255A>G
ENST00000652487.1:c.3038A>G
ENST00000682565.1:c.11486A>G	ENSP00000507671.1:p.His3829Arg
ENST00000682801.1:c.11167-1309A>G	ENSP00000507862.1:n.11167-1309A>G
ENST00000682859.1:c.11486A>G	ENSP00000508222.1:p.His3829Arg
ENST00000683791.1:c.4572A>G
ENST00000684460.1:c.8767A>G
ENST00000684548.1:c.11486A>G	ENSP00000507421.1:p.His3829Arg
ENST00000684590.1:c.5933A>G	ENSP00000507376.1:p.His1978Arg
ENST00000684656.1:c.8951A>G