Canonical Allele Identifier: CA1714520

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490643G>A , CM000664.2:g.73490643G>A	GRCh38
NC_000002.11:g.73717770G>A , CM000664.1:g.73717770G>A	GRCh37
NC_000002.10:g.73571278G>A	NCBI36
NG_011690.1:g.109891G>A , LRG_741:g.109891G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8684G>A MANE Select	NP_001365383.1:p.Arg2895His
ENST00000613296.6:c.8684G>A MANE Select	ENSP00000482968.1:p.Arg2895His
NM_015120.4:c.8687G>A , LRG_741t1:c.8687G>A	NP_055935.4:p.Arg2896His
ENST00000423048.5:c.3030+485G>A	ENSP00000399833.1:n.3030+485G>A
ENST00000484298.5:c.8558G>A	ENSP00000478155.1:p.Arg2853His
ENST00000613296.4:c.8684G>A	ENSP00000482968.1:p.Arg2895His
ENST00000614410.4:c.8684G>A	ENSP00000479094.1:p.Arg2895His
ENST00000620466.4:n.2487G>A
ENST00000651434.1:c.896-29132G>A
ENST00000682565.1:c.8303G>A	ENSP00000507671.1:p.Arg2768His
ENST00000682801.1:c.8303G>A	ENSP00000507862.1:p.Arg2768His
ENST00000682859.1:c.8303G>A	ENSP00000508222.1:p.Arg2768His
ENST00000683791.1:c.1695G>A
ENST00000684460.1:c.5755G>A
ENST00000684548.1:c.8303G>A	ENSP00000507421.1:p.Arg2768His
ENST00000684590.1:c.2750G>A	ENSP00000507376.1:p.Arg917His
ENST00000684656.1:c.5755G>A