Canonical Allele Identifier: CA347283821

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 959752
• ClinVar RCV Id: RCV001233156
• dbSNP Id: rs1674954136
• MyVariant Identifiers: chr2:g.73799579C>A (hg19) ; chr2:g.73572452C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10194C>A	ENSP00000507671.1:p.His3398Gln
ENST00000682801.1:c.10194C>A	ENSP00000507862.1:p.His3398Gln
ENST00000682859.1:c.10194C>A	ENSP00000508222.1:p.His3398Gln
ENST00000683791.1:c.3280C>A
ENST00000684460.1:c.7475C>A
ENST00000684548.1:c.10194C>A	ENSP00000507421.1:p.His3398Gln
ENST00000684590.1:c.4641C>A	ENSP00000507376.1:p.His1547Gln
ENST00000684656.1:c.7520C>A
ENST00000613296.6:c.10575C>A MANE Select	ENSP00000482968.1:p.His3525Gln
ENST00000651057.1:c.729C>A	ENSP00000498504.1:p.His243Gln
ENST00000651434.1:c.1931C>A
ENST00000652487.1:c.1672C>A
ENST00000423048.5:c.4066C>A	ENSP00000399833.1:n.4066C>A
ENST00000484298.5:c.10449C>A	ENSP00000478155.1:p.His3483Gln
ENST00000613296.4:c.10575C>A	ENSP00000482968.1:p.His3525Gln
ENST00000614410.4:c.10575C>A	ENSP00000479094.1:p.His3525Gln
ENST00000620466.4:n.4378C>A
NM_015120.4:c.10578C>A , LRG_741t1:c.10578C>A	NP_055935.4:p.His3526Gln
NM_001378454.1:c.10575C>A MANE Select	NP_001365383.1:p.His3525Gln