Canonical Allele Identifier: CA347274356

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608473A>C , CM000664.2:g.73608473A>C	GRCh38
NC_000002.11:g.73835600A>C , CM000664.1:g.73835600A>C	GRCh37
NC_000002.10:g.73689108A>C	NCBI36
NG_011690.1:g.227721A>C , LRG_741:g.227721A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12363-2A>C MANE Select	NP_001365383.1:n.12363-2A>C
ENST00000613296.6:c.12363-2A>C MANE Select	ENSP00000482968.1:n.12363-2A>C
NM_015120.4:c.12366-2A>C , LRG_741t1:c.12366-2A>C	NP_055935.4:n.12366-2A>C
ENST00000464408.3:n.599-2A>C
ENST00000484298.5:c.12237-2A>C	ENSP00000478155.1:n.12237-2A>C
ENST00000490821.1:n.7-2A>C
ENST00000613296.4:c.12363-2A>C	ENSP00000482968.1:n.12363-2A>C
ENST00000651057.1:c.2517-2A>C	ENSP00000498504.1:n.2517-2A>C
ENST00000651434.1:c.3719-2A>C
ENST00000651750.1:c.1509-2A>C
ENST00000652487.1:c.3534-2A>C
ENST00000682565.1:c.12060-2A>C	ENSP00000507671.1:n.12060-2A>C
ENST00000682801.1:c.11415-2A>C	ENSP00000507862.1:n.11415-2A>C
ENST00000682859.1:c.11982-2A>C	ENSP00000508222.1:n.11982-2A>C
ENST00000683108.1:n.103A>C
ENST00000683147.1:n.3440A>C
ENST00000683791.1:c.5068-2A>C
ENST00000684460.1:c.9263-2A>C
ENST00000684548.1:c.11982-2A>C	ENSP00000507421.1:n.11982-2A>C
ENST00000684590.1:c.6429-2A>C	ENSP00000507376.1:n.6429-2A>C
ENST00000684656.1:c.9447-2A>C