Canonical Allele Identifier: CA1715204

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573354A>G , CM000664.2:g.73573354A>G	GRCh38
NC_000002.11:g.73800481A>G , CM000664.1:g.73800481A>G	GRCh37
NC_000002.10:g.73653989A>G	NCBI36
NG_011690.1:g.192602A>G , LRG_741:g.192602A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11477A>G MANE Select	NP_001365383.1:p.His3826Arg
ENST00000613296.6:c.11477A>G MANE Select	ENSP00000482968.1:p.His3826Arg
NM_015120.4:c.11480A>G , LRG_741t1:c.11480A>G	NP_055935.4:p.His3827Arg
ENST00000423048.5:c.4968A>G	ENSP00000399833.1:n.4968A>G
ENST00000484298.5:c.11351A>G	ENSP00000478155.1:p.His3784Arg
ENST00000613296.4:c.11477A>G	ENSP00000482968.1:p.His3826Arg
ENST00000614410.4:c.11477A>G	ENSP00000479094.1:p.His3826Arg
ENST00000620466.4:n.5280A>G
ENST00000651057.1:c.1631A>G	ENSP00000498504.1:p.His544Arg
ENST00000651434.1:c.2833A>G
ENST00000651750.1:c.865A>G
ENST00000652487.1:c.2574A>G
ENST00000682565.1:c.11096A>G	ENSP00000507671.1:p.His3699Arg
ENST00000682801.1:c.11096A>G	ENSP00000507862.1:p.His3699Arg
ENST00000682859.1:c.11096A>G	ENSP00000508222.1:p.His3699Arg
ENST00000683791.1:c.4182A>G
ENST00000684460.1:c.8377A>G
ENST00000684548.1:c.11096A>G	ENSP00000507421.1:p.His3699Arg
ENST00000684590.1:c.5543A>G	ENSP00000507376.1:p.His1848Arg
ENST00000684656.1:c.8422A>G