Canonical Allele Identifier: CA1261020999

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572371T= , CM000664.2:g.73572371T=	GRCh38
NC_000002.11:g.73799498T= , CM000664.1:g.73799498T=	GRCh37
NC_000002.10:g.73653006T=	NCBI36
NG_011690.1:g.191619T= , LRG_741:g.191619T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10113T=	ENSP00000507671.1:p.His3371=
ENST00000682801.1:c.10113T=	ENSP00000507862.1:p.His3371=
ENST00000682859.1:c.10113T=	ENSP00000508222.1:p.His3371=
ENST00000683791.1:c.3199T=
ENST00000684460.1:c.7394T=
ENST00000684548.1:c.10113T=	ENSP00000507421.1:p.His3371=
ENST00000684590.1:c.4560T=	ENSP00000507376.1:p.His1520=
ENST00000684656.1:c.7439T=
ENST00000613296.6:c.10494T= MANE Select	ENSP00000482968.1:p.His3498=
ENST00000651057.1:c.648T=	ENSP00000498504.1:p.His216=
ENST00000651434.1:c.1850T=
ENST00000652487.1:c.1591T=
ENST00000423048.5:c.3985T=	ENSP00000399833.1:n.3985T=
ENST00000484298.5:c.10368T=	ENSP00000478155.1:p.His3456=
ENST00000613296.4:c.10494T=	ENSP00000482968.1:p.His3498=
ENST00000614410.4:c.10494T=	ENSP00000479094.1:p.His3498=
ENST00000620466.4:n.4297T=
NM_015120.4:c.10497T= , LRG_741t1:c.10497T=	NP_055935.4:p.His3499=
NM_001378454.1:c.10494T= MANE Select	NP_001365383.1:p.His3498=