Canonical Allele Identifier: CA1715564

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608463G>A , CM000664.2:g.73608463G>A	GRCh38
NC_000002.11:g.73835590G>A , CM000664.1:g.73835590G>A	GRCh37
NC_000002.10:g.73689098G>A	NCBI36
NG_011690.1:g.227711G>A , LRG_741:g.227711G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12363-12G>A MANE Select	NP_001365383.1:n.12363-12G>A
ENST00000613296.6:c.12363-12G>A MANE Select	ENSP00000482968.1:n.12363-12G>A
NM_015120.4:c.12366-12G>A , LRG_741t1:c.12366-12G>A	NP_055935.4:n.12366-12G>A
ENST00000464408.3:n.599-12G>A
ENST00000484298.5:c.12237-12G>A	ENSP00000478155.1:n.12237-12G>A
ENST00000490821.1:n.7-12G>A
ENST00000613296.4:c.12363-12G>A	ENSP00000482968.1:n.12363-12G>A
ENST00000651057.1:c.2517-12G>A	ENSP00000498504.1:n.2517-12G>A
ENST00000651434.1:c.3719-12G>A
ENST00000651750.1:c.1509-12G>A
ENST00000652487.1:c.3534-12G>A
ENST00000682565.1:c.12060-12G>A	ENSP00000507671.1:n.12060-12G>A
ENST00000682801.1:c.11415-12G>A	ENSP00000507862.1:n.11415-12G>A
ENST00000682859.1:c.11982-12G>A	ENSP00000508222.1:n.11982-12G>A
ENST00000683108.1:n.93G>A
ENST00000683147.1:n.3430G>A
ENST00000683791.1:c.5068-12G>A
ENST00000684460.1:c.9263-12G>A
ENST00000684548.1:c.11982-12G>A	ENSP00000507421.1:n.11982-12G>A
ENST00000684590.1:c.6429-12G>A	ENSP00000507376.1:n.6429-12G>A
ENST00000684656.1:c.9447-12G>A