Canonical Allele Identifier: CA347263931

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489684-T-A
• MyVariant Identifiers: chr2:g.73716811T>A (hg19) ; chr2:g.73489684T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489684T>A , CM000664.2:g.73489684T>A	GRCh38
NC_000002.11:g.73716811T>A , CM000664.1:g.73716811T>A	GRCh37
NC_000002.10:g.73570319T>A	NCBI36
NG_011690.1:g.108932T>A , LRG_741:g.108932T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7344T>A	ENSP00000507671.1:p.Ser2448Arg
ENST00000682801.1:c.7344T>A	ENSP00000507862.1:p.Ser2448Arg
ENST00000682859.1:c.7344T>A	ENSP00000508222.1:p.Ser2448Arg
ENST00000683791.1:c.736T>A
ENST00000684460.1:c.4796T>A
ENST00000684548.1:c.7344T>A	ENSP00000507421.1:p.Ser2448Arg
ENST00000684590.1:c.1791T>A	ENSP00000507376.1:p.Ser597Arg
ENST00000684656.1:c.4796T>A
ENST00000613296.6:c.7725T>A MANE Select	ENSP00000482968.1:p.Ser2575Arg
ENST00000651434.1:c.896-30091T>A
ENST00000423048.5:c.2556T>A	ENSP00000399833.1:p.Ser852Arg
ENST00000484298.5:c.7599T>A	ENSP00000478155.1:p.Ser2533Arg
ENST00000613296.4:c.7725T>A	ENSP00000482968.1:p.Ser2575Arg
ENST00000614410.4:c.7725T>A	ENSP00000479094.1:p.Ser2575Arg
ENST00000620466.4:n.1528T>A
NM_015120.4:c.7728T>A , LRG_741t1:c.7728T>A	NP_055935.4:p.Ser2576Arg
NM_001378454.1:c.7725T>A MANE Select	NP_001365383.1:p.Ser2575Arg