Canonical Allele Identifier: CA1715001

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572298G>A , CM000664.2:g.73572298G>A	GRCh38
NC_000002.11:g.73799425G>A , CM000664.1:g.73799425G>A	GRCh37
NC_000002.10:g.73652933G>A	NCBI36
NG_011690.1:g.191546G>A , LRG_741:g.191546G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10421G>A MANE Select	NP_001365383.1:p.Arg3474His
ENST00000613296.6:c.10421G>A MANE Select	ENSP00000482968.1:p.Arg3474His
NM_015120.4:c.10424G>A , LRG_741t1:c.10424G>A	NP_055935.4:p.Arg3475His
ENST00000423048.5:c.3912G>A	ENSP00000399833.1:n.3912G>A
ENST00000484298.5:c.10295G>A	ENSP00000478155.1:p.Arg3432His
ENST00000613296.4:c.10421G>A	ENSP00000482968.1:p.Arg3474His
ENST00000614410.4:c.10421G>A	ENSP00000479094.1:p.Arg3474His
ENST00000620466.4:n.4224G>A
ENST00000651057.1:c.575G>A	ENSP00000498504.1:p.Arg192His
ENST00000651434.1:c.1777G>A
ENST00000652487.1:c.1518G>A
ENST00000682565.1:c.10040G>A	ENSP00000507671.1:p.Arg3347His
ENST00000682801.1:c.10040G>A	ENSP00000507862.1:p.Arg3347His
ENST00000682859.1:c.10040G>A	ENSP00000508222.1:p.Arg3347His
ENST00000683791.1:c.3126G>A
ENST00000684460.1:c.7321G>A
ENST00000684548.1:c.10040G>A	ENSP00000507421.1:p.Arg3347His
ENST00000684590.1:c.4487G>A	ENSP00000507376.1:p.Arg1496His
ENST00000684656.1:c.7366G>A