Canonical Allele Identifier: CA50351990

Gene: ALMS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73408643G>A , CM000664.2:g.73408643G>A	GRCh38
NC_000002.11:g.73635771G>A , CM000664.1:g.73635771G>A	GRCh37
NC_000002.10:g.73489279G>A	NCBI36
NG_011690.1:g.27889G>A , LRG_741:g.27889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682675.1:n.306G>A
ENST00000682889.1:n.311G>A
ENST00000684148.1:n.197-10480G>A
ENST00000613296.6:c.346G>A MANE Select	ENSP00000482968.1:p.Val116Ile
ENST00000484298.5:c.325-10480G>A	ENSP00000478155.1:n.325-10480G>A
ENST00000613296.4:c.346G>A	ENSP00000482968.1:p.Val116Ile
ENST00000614410.4:c.346G>A	ENSP00000479094.1:p.Val116Ile
NM_015120.4:c.349G>A , LRG_741t1:c.349G>A	NP_055935.4:p.Val117Ile
NM_001378454.1:c.346G>A MANE Select	NP_001365383.1:p.Val116Ile