Canonical Allele Identifier: CA1714761

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73520005G>A , CM000664.2:g.73520005G>A	GRCh38
NC_000002.11:g.73747132G>A , CM000664.1:g.73747132G>A	GRCh37
NC_000002.10:g.73600640G>A	NCBI36
NG_011690.1:g.139253G>A , LRG_741:g.139253G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9770G>A MANE Select	NP_001365383.1:p.Arg3257His
ENST00000613296.6:c.9770G>A MANE Select	ENSP00000482968.1:p.Arg3257His
NM_015120.4:c.9773G>A , LRG_741t1:c.9773G>A	NP_055935.4:p.Arg3258His
ENST00000423048.5:c.3261G>A	ENSP00000399833.1:n.3261G>A
ENST00000476650.2:n.61G>A
ENST00000484298.5:c.9644G>A	ENSP00000478155.1:p.Arg3215His
ENST00000613296.4:c.9770G>A	ENSP00000482968.1:p.Arg3257His
ENST00000614410.4:c.9770G>A	ENSP00000479094.1:p.Arg3257His
ENST00000620466.4:n.3573G>A
ENST00000651057.1:c.50G>A	ENSP00000498504.1:p.Arg17His
ENST00000651434.1:c.1126G>A
ENST00000652487.1:c.867G>A
ENST00000682565.1:c.9389G>A	ENSP00000507671.1:p.Arg3130His
ENST00000682801.1:c.9389G>A	ENSP00000507862.1:p.Arg3130His
ENST00000682859.1:c.9389G>A	ENSP00000508222.1:p.Arg3130His
ENST00000683791.1:c.2781G>A
ENST00000684460.1:c.6841G>A
ENST00000684548.1:c.9389G>A	ENSP00000507421.1:p.Arg3130His
ENST00000684590.1:c.3836G>A	ENSP00000507376.1:p.Arg1279His
ENST00000684656.1:c.6841G>A