Canonical Allele Identifier: CA1261021210

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572452C= , CM000664.2:g.73572452C=	GRCh38
NC_000002.11:g.73799579C= , CM000664.1:g.73799579C=	GRCh37
NC_000002.10:g.73653087C=	NCBI36
NG_011690.1:g.191700C= , LRG_741:g.191700C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10194C=	ENSP00000507671.1:p.His3398=
ENST00000682801.1:c.10194C=	ENSP00000507862.1:p.His3398=
ENST00000682859.1:c.10194C=	ENSP00000508222.1:p.His3398=
ENST00000683791.1:c.3280C=
ENST00000684460.1:c.7475C=
ENST00000684548.1:c.10194C=	ENSP00000507421.1:p.His3398=
ENST00000684590.1:c.4641C=	ENSP00000507376.1:p.His1547=
ENST00000684656.1:c.7520C=
ENST00000613296.6:c.10575C= MANE Select	ENSP00000482968.1:p.His3525=
ENST00000651057.1:c.729C=	ENSP00000498504.1:p.His243=
ENST00000651434.1:c.1931C=
ENST00000652487.1:c.1672C=
ENST00000423048.5:c.4066C=	ENSP00000399833.1:n.4066C=
ENST00000484298.5:c.10449C=	ENSP00000478155.1:p.His3483=
ENST00000613296.4:c.10575C=	ENSP00000482968.1:p.His3525=
ENST00000614410.4:c.10575C=	ENSP00000479094.1:p.His3525=
ENST00000620466.4:n.4378C=
NM_015120.4:c.10578C= , LRG_741t1:c.10578C=	NP_055935.4:p.His3526=
NM_001378454.1:c.10575C= MANE Select	NP_001365383.1:p.His3525=