Canonical Allele Identifier: CA347286403

Gene: ALMS1

Linked Data

• dbSNP Id: rs748200460
• gnomAD v2: 2-73799955-C-G
• gnomAD v4: 2-73572828-C-G
• MyVariant Identifiers: chr2:g.73799955C>G (hg19) ; chr2:g.73572828C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572828C>G , CM000664.2:g.73572828C>G	GRCh38
NC_000002.11:g.73799955C>G , CM000664.1:g.73799955C>G	GRCh37
NC_000002.10:g.73653463C>G	NCBI36
NG_011690.1:g.192076C>G , LRG_741:g.192076C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10570C>G	ENSP00000507671.1:p.His3524Asp
ENST00000682801.1:c.10570C>G	ENSP00000507862.1:p.His3524Asp
ENST00000682859.1:c.10570C>G	ENSP00000508222.1:p.His3524Asp
ENST00000683791.1:c.3656C>G
ENST00000684460.1:c.7851C>G
ENST00000684548.1:c.10570C>G	ENSP00000507421.1:p.His3524Asp
ENST00000684590.1:c.5017C>G	ENSP00000507376.1:p.His1673Asp
ENST00000684656.1:c.7896C>G
ENST00000613296.6:c.10951C>G MANE Select	ENSP00000482968.1:p.His3651Asp
ENST00000651057.1:c.1105C>G	ENSP00000498504.1:p.His369Asp
ENST00000651434.1:c.2307C>G
ENST00000651750.1:c.339C>G
ENST00000652487.1:c.2048C>G
ENST00000423048.5:c.4442C>G	ENSP00000399833.1:n.4442C>G
ENST00000484298.5:c.10825C>G	ENSP00000478155.1:p.His3609Asp
ENST00000613296.4:c.10951C>G	ENSP00000482968.1:p.His3651Asp
ENST00000614410.4:c.10951C>G	ENSP00000479094.1:p.His3651Asp
ENST00000620466.4:n.4754C>G
NM_015120.4:c.10954C>G , LRG_741t1:c.10954C>G	NP_055935.4:p.His3652Asp
NM_001378454.1:c.10951C>G MANE Select	NP_001365383.1:p.His3651Asp