Canonical Allele Identifier: CA347286238

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1378242
• ClinVar RCV Id: RCV001881037
• dbSNP Id: rs1240495775
• gnomAD v2: 2-73799929-A-G
• gnomAD v4: 2-73572802-A-G
• MyVariant Identifiers: chr2:g.73799929A>G (hg19) ; chr2:g.73572802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572802A>G , CM000664.2:g.73572802A>G	GRCh38
NC_000002.11:g.73799929A>G , CM000664.1:g.73799929A>G	GRCh37
NC_000002.10:g.73653437A>G	NCBI36
NG_011690.1:g.192050A>G , LRG_741:g.192050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10544A>G	ENSP00000507671.1:p.His3515Arg
ENST00000682801.1:c.10544A>G	ENSP00000507862.1:p.His3515Arg
ENST00000682859.1:c.10544A>G	ENSP00000508222.1:p.His3515Arg
ENST00000683791.1:c.3630A>G
ENST00000684460.1:c.7825A>G
ENST00000684548.1:c.10544A>G	ENSP00000507421.1:p.His3515Arg
ENST00000684590.1:c.4991A>G	ENSP00000507376.1:p.His1664Arg
ENST00000684656.1:c.7870A>G
ENST00000613296.6:c.10925A>G MANE Select	ENSP00000482968.1:p.His3642Arg
ENST00000651057.1:c.1079A>G	ENSP00000498504.1:p.His360Arg
ENST00000651434.1:c.2281A>G
ENST00000651750.1:c.313A>G
ENST00000652487.1:c.2022A>G
ENST00000423048.5:c.4416A>G	ENSP00000399833.1:n.4416A>G
ENST00000484298.5:c.10799A>G	ENSP00000478155.1:p.His3600Arg
ENST00000613296.4:c.10925A>G	ENSP00000482968.1:p.His3642Arg
ENST00000614410.4:c.10925A>G	ENSP00000479094.1:p.His3642Arg
ENST00000620466.4:n.4728A>G
NM_015120.4:c.10928A>G , LRG_741t1:c.10928A>G	NP_055935.4:p.His3643Arg
NM_001378454.1:c.10925A>G MANE Select	NP_001365383.1:p.His3642Arg