Canonical Allele Identifier: CA1715500

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73602345G>A , CM000664.2:g.73602345G>A	GRCh38
NC_000002.11:g.73829472G>A , CM000664.1:g.73829472G>A	GRCh37
NC_000002.10:g.73682980G>A	NCBI36
NG_011690.1:g.221593G>A , LRG_741:g.221593G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12275G>A MANE Select	NP_001365383.1:p.Arg4092His
ENST00000613296.6:c.12275G>A MANE Select	ENSP00000482968.1:p.Arg4092His
NM_015120.4:c.12278G>A , LRG_741t1:c.12278G>A	NP_055935.4:p.Arg4093His
ENST00000464408.3:n.450G>A
ENST00000484298.5:c.12149G>A	ENSP00000478155.1:p.Arg4050His
ENST00000613296.4:c.12275G>A	ENSP00000482968.1:p.Arg4092His
ENST00000620466.4:n.6078G>A
ENST00000651057.1:c.2429G>A	ENSP00000498504.1:p.Arg810His
ENST00000651434.1:c.3631G>A
ENST00000651750.1:c.1421G>A
ENST00000652487.1:c.3446G>A
ENST00000682565.1:c.11894G>A	ENSP00000507671.1:p.Arg3965His
ENST00000682801.1:c.11327G>A	ENSP00000507862.1:p.Arg3776His
ENST00000682859.1:c.11894G>A	ENSP00000508222.1:p.Arg3965His
ENST00000683791.1:c.4980G>A
ENST00000684460.1:c.9175G>A
ENST00000684548.1:c.11894G>A	ENSP00000507421.1:p.Arg3965His
ENST00000684590.1:c.6341G>A	ENSP00000507376.1:p.Arg2114His
ENST00000684656.1:c.9359G>A