Canonical Allele Identifier: CA1714962

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559074A>G , CM000664.2:g.73559074A>G	GRCh38
NC_000002.11:g.73786201A>G , CM000664.1:g.73786201A>G	GRCh37
NC_000002.10:g.73639709A>G	NCBI36
NG_011690.1:g.178322A>G , LRG_741:g.178322A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10316A>G MANE Select	NP_001365383.1:p.His3439Arg
ENST00000613296.6:c.10316A>G MANE Select	ENSP00000482968.1:p.His3439Arg
NM_015120.4:c.10319A>G , LRG_741t1:c.10319A>G	NP_055935.4:p.His3440Arg
ENST00000423048.5:c.3807A>G	ENSP00000399833.1:n.3807A>G
ENST00000484298.5:c.10190A>G	ENSP00000478155.1:p.His3397Arg
ENST00000613296.4:c.10316A>G	ENSP00000482968.1:p.His3439Arg
ENST00000614410.4:c.10316A>G	ENSP00000479094.1:p.His3439Arg
ENST00000620466.4:n.4119A>G
ENST00000651057.1:c.470A>G	ENSP00000498504.1:p.His157Arg
ENST00000651434.1:c.1672A>G
ENST00000652487.1:c.1413A>G
ENST00000682565.1:c.9935A>G	ENSP00000507671.1:p.His3312Arg
ENST00000682801.1:c.9935A>G	ENSP00000507862.1:p.His3312Arg
ENST00000682859.1:c.9935A>G	ENSP00000508222.1:p.His3312Arg
ENST00000683791.1:c.3089+8637A>G
ENST00000684460.1:c.7216A>G
ENST00000684548.1:c.9935A>G	ENSP00000507421.1:p.His3312Arg
ENST00000684590.1:c.4382A>G	ENSP00000507376.1:p.His1461Arg
ENST00000684656.1:c.7261A>G