Canonical Allele Identifier: CA347263982

Gene: ALMS1

Linked Data

• dbSNP Id: rs1221650688
• gnomAD v2: 2-73716832-T-A
• gnomAD v4: 2-73489705-T-A
• MyVariant Identifiers: chr2:g.73716832T>A (hg19) ; chr2:g.73489705T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489705T>A , CM000664.2:g.73489705T>A	GRCh38
NC_000002.11:g.73716832T>A , CM000664.1:g.73716832T>A	GRCh37
NC_000002.10:g.73570340T>A	NCBI36
NG_011690.1:g.108953T>A , LRG_741:g.108953T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7365T>A	ENSP00000507671.1:p.His2455Gln
ENST00000682801.1:c.7365T>A	ENSP00000507862.1:p.His2455Gln
ENST00000682859.1:c.7365T>A	ENSP00000508222.1:p.His2455Gln
ENST00000683791.1:c.757T>A
ENST00000684460.1:c.4817T>A
ENST00000684548.1:c.7365T>A	ENSP00000507421.1:p.His2455Gln
ENST00000684590.1:c.1812T>A	ENSP00000507376.1:p.His604Gln
ENST00000684656.1:c.4817T>A
ENST00000613296.6:c.7746T>A MANE Select	ENSP00000482968.1:p.His2582Gln
ENST00000651434.1:c.896-30070T>A
ENST00000423048.5:c.2577T>A	ENSP00000399833.1:p.His859Gln
ENST00000484298.5:c.7620T>A	ENSP00000478155.1:p.His2540Gln
ENST00000613296.4:c.7746T>A	ENSP00000482968.1:p.His2582Gln
ENST00000614410.4:c.7746T>A	ENSP00000479094.1:p.His2582Gln
ENST00000620466.4:n.1549T>A
NM_015120.4:c.7749T>A , LRG_741t1:c.7749T>A	NP_055935.4:p.His2583Gln
NM_001378454.1:c.7746T>A MANE Select	NP_001365383.1:p.His2582Gln