Canonical Allele Identifier: CA347270970

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73603240G>A , CM000664.2:g.73603240G>A	GRCh38
NC_000002.11:g.73830367G>A , CM000664.1:g.73830367G>A	GRCh37
NC_000002.10:g.73683875G>A	NCBI36
NG_011690.1:g.222488G>A , LRG_741:g.222488G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12299-1G>A MANE Select	NP_001365383.1:n.12299-1G>A
ENST00000613296.6:c.12299-1G>A MANE Select	ENSP00000482968.1:n.12299-1G>A
NM_015120.4:c.12302-1G>A , LRG_741t1:c.12302-1G>A	NP_055935.4:n.12302-1G>A
ENST00000464408.3:n.474-1G>A
ENST00000484298.5:c.12173-1G>A	ENSP00000478155.1:n.12173-1G>A
ENST00000613296.4:c.12299-1G>A	ENSP00000482968.1:n.12299-1G>A
ENST00000620466.4:n.6102-1G>A
ENST00000651057.1:c.2453-1G>A	ENSP00000498504.1:n.2453-1G>A
ENST00000651434.1:c.3655-1G>A
ENST00000651750.1:c.1445-1G>A
ENST00000652487.1:c.3470-1G>A
ENST00000682565.1:c.11918-1G>A	ENSP00000507671.1:n.11918-1G>A
ENST00000682801.1:c.11351-1G>A	ENSP00000507862.1:n.11351-1G>A
ENST00000682859.1:c.11918-1G>A	ENSP00000508222.1:n.11918-1G>A
ENST00000683791.1:c.5004-1G>A
ENST00000684460.1:c.9199-1G>A
ENST00000684548.1:c.11918-1G>A	ENSP00000507421.1:n.11918-1G>A
ENST00000684590.1:c.6365-1G>A	ENSP00000507376.1:n.6365-1G>A
ENST00000684656.1:c.9383-1G>A