Canonical Allele Identifier: CA347277756

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73558999A>G , CM000664.2:g.73558999A>G	GRCh38
NC_000002.11:g.73786126A>G , CM000664.1:g.73786126A>G	GRCh37
NC_000002.10:g.73639634A>G	NCBI36
NG_011690.1:g.178247A>G , LRG_741:g.178247A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10241A>G MANE Select	NP_001365383.1:p.His3414Arg
ENST00000613296.6:c.10241A>G MANE Select	ENSP00000482968.1:p.His3414Arg
NM_015120.4:c.10244A>G , LRG_741t1:c.10244A>G	NP_055935.4:p.His3415Arg
ENST00000423048.5:c.3732A>G	ENSP00000399833.1:n.3732A>G
ENST00000484298.5:c.10115A>G	ENSP00000478155.1:p.His3372Arg
ENST00000613296.4:c.10241A>G	ENSP00000482968.1:p.His3414Arg
ENST00000614410.4:c.10241A>G	ENSP00000479094.1:p.His3414Arg
ENST00000620466.4:n.4044A>G
ENST00000651057.1:c.395A>G	ENSP00000498504.1:p.His132Arg
ENST00000651434.1:c.1597A>G
ENST00000652487.1:c.1338A>G
ENST00000682565.1:c.9860A>G	ENSP00000507671.1:p.His3287Arg
ENST00000682801.1:c.9860A>G	ENSP00000507862.1:p.His3287Arg
ENST00000682859.1:c.9860A>G	ENSP00000508222.1:p.His3287Arg
ENST00000683791.1:c.3089+8562A>G
ENST00000684460.1:c.7141A>G
ENST00000684548.1:c.9860A>G	ENSP00000507421.1:p.His3287Arg
ENST00000684590.1:c.4307A>G	ENSP00000507376.1:p.His1436Arg
ENST00000684656.1:c.7186A>G