Canonical Allele Identifier: CA347282955

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1696932
• ClinVar RCV Id: RCV002267278
• dbSNP Id: rs2104103721
• MyVariant Identifiers: chr2:g.73799458A>G (hg19) ; chr2:g.73572331A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572331A>G , CM000664.2:g.73572331A>G	GRCh38
NC_000002.11:g.73799458A>G , CM000664.1:g.73799458A>G	GRCh37
NC_000002.10:g.73652966A>G	NCBI36
NG_011690.1:g.191579A>G , LRG_741:g.191579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10073A>G	ENSP00000507671.1:p.His3358Arg
ENST00000682801.1:c.10073A>G	ENSP00000507862.1:p.His3358Arg
ENST00000682859.1:c.10073A>G	ENSP00000508222.1:p.His3358Arg
ENST00000683791.1:c.3159A>G
ENST00000684460.1:c.7354A>G
ENST00000684548.1:c.10073A>G	ENSP00000507421.1:p.His3358Arg
ENST00000684590.1:c.4520A>G	ENSP00000507376.1:p.His1507Arg
ENST00000684656.1:c.7399A>G
ENST00000613296.6:c.10454A>G MANE Select	ENSP00000482968.1:p.His3485Arg
ENST00000651057.1:c.608A>G	ENSP00000498504.1:p.His203Arg
ENST00000651434.1:c.1810A>G
ENST00000652487.1:c.1551A>G
ENST00000423048.5:c.3945A>G	ENSP00000399833.1:n.3945A>G
ENST00000484298.5:c.10328A>G	ENSP00000478155.1:p.His3443Arg
ENST00000613296.4:c.10454A>G	ENSP00000482968.1:p.His3485Arg
ENST00000614410.4:c.10454A>G	ENSP00000479094.1:p.His3485Arg
ENST00000620466.4:n.4257A>G
NM_015120.4:c.10457A>G , LRG_741t1:c.10457A>G	NP_055935.4:p.His3486Arg
NM_001378454.1:c.10454A>G MANE Select	NP_001365383.1:p.His3485Arg