Canonical Allele Identifier: CA347276075

Gene: ALMS1

Linked Data

• dbSNP Id: rs1423162992
• gnomAD v2: 2-73677284-C-G
• gnomAD v4: 2-73450157-C-G
• MyVariant Identifiers: chr2:g.73677284C>G (hg19) ; chr2:g.73450157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450157C>G , CM000664.2:g.73450157C>G	GRCh38
NC_000002.11:g.73677284C>G , CM000664.1:g.73677284C>G	GRCh37
NC_000002.10:g.73530792C>G	NCBI36
NG_011690.1:g.69405C>G , LRG_741:g.69405C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3249C>G	ENSP00000507671.1:p.His1083Gln
ENST00000682801.1:c.3249C>G	ENSP00000507862.1:p.His1083Gln
ENST00000682859.1:c.3249C>G	ENSP00000508222.1:p.His1083Gln
ENST00000683791.1:c.685+17866C>G
ENST00000684460.1:c.701C>G
ENST00000684548.1:c.3249C>G	ENSP00000507421.1:p.His1083Gln
ENST00000684656.1:c.701C>G
ENST00000613296.6:c.3630C>G MANE Select	ENSP00000482968.1:p.His1210Gln
ENST00000484298.5:c.3504C>G	ENSP00000478155.1:p.His1168Gln
ENST00000613296.4:c.3630C>G	ENSP00000482968.1:p.His1210Gln
ENST00000614410.4:c.3630C>G	ENSP00000479094.1:p.His1210Gln
NM_015120.4:c.3633C>G , LRG_741t1:c.3633C>G	NP_055935.4:p.His1211Gln
NM_001378454.1:c.3630C>G MANE Select	NP_001365383.1:p.His1210Gln