Canonical Allele Identifier: CA1714749

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519968G>A , CM000664.2:g.73519968G>A	GRCh38
NC_000002.11:g.73747095G>A , CM000664.1:g.73747095G>A	GRCh37
NC_000002.10:g.73600603G>A	NCBI36
NG_011690.1:g.139216G>A , LRG_741:g.139216G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9733G>A MANE Select	NP_001365383.1:p.Ala3245Thr
ENST00000613296.6:c.9733G>A MANE Select	ENSP00000482968.1:p.Ala3245Thr
NM_015120.4:c.9736G>A , LRG_741t1:c.9736G>A	NP_055935.4:p.Ala3246Thr
ENST00000423048.5:c.3224G>A	ENSP00000399833.1:n.3224G>A
ENST00000476650.2:n.24G>A
ENST00000484298.5:c.9607G>A	ENSP00000478155.1:p.Ala3203Thr
ENST00000613296.4:c.9733G>A	ENSP00000482968.1:p.Ala3245Thr
ENST00000614410.4:c.9733G>A	ENSP00000479094.1:p.Ala3245Thr
ENST00000620466.4:n.3536G>A
ENST00000651057.1:c.13G>A	ENSP00000498504.1:p.Ala5Thr
ENST00000651434.1:c.1089G>A
ENST00000652487.1:c.830G>A
ENST00000682565.1:c.9352G>A	ENSP00000507671.1:p.Ala3118Thr
ENST00000682801.1:c.9352G>A	ENSP00000507862.1:p.Ala3118Thr
ENST00000682859.1:c.9352G>A	ENSP00000508222.1:p.Ala3118Thr
ENST00000683791.1:c.2744G>A
ENST00000684460.1:c.6804G>A
ENST00000684548.1:c.9352G>A	ENSP00000507421.1:p.Ala3118Thr
ENST00000684590.1:c.3799G>A	ENSP00000507376.1:p.Ala1267Thr
ENST00000684656.1:c.6804G>A