Canonical Allele Identifier: CA347268353

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490302-A-T
• MyVariant Identifiers: chr2:g.73717429A>T (hg19) ; chr2:g.73490302A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490302A>T , CM000664.2:g.73490302A>T	GRCh38
NC_000002.11:g.73717429A>T , CM000664.1:g.73717429A>T	GRCh37
NC_000002.10:g.73570937A>T	NCBI36
NG_011690.1:g.109550A>T , LRG_741:g.109550A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7962A>T	ENSP00000507671.1:p.Gln2654His
ENST00000682801.1:c.7962A>T	ENSP00000507862.1:p.Gln2654His
ENST00000682859.1:c.7962A>T	ENSP00000508222.1:p.Gln2654His
ENST00000683791.1:c.1354A>T
ENST00000684460.1:c.5414A>T
ENST00000684548.1:c.7962A>T	ENSP00000507421.1:p.Gln2654His
ENST00000684590.1:c.2409A>T	ENSP00000507376.1:p.Gln803His
ENST00000684656.1:c.5414A>T
ENST00000613296.6:c.8343A>T MANE Select	ENSP00000482968.1:p.Gln2781His
ENST00000651434.1:c.896-29473A>T
ENST00000423048.5:c.3030+144A>T	ENSP00000399833.1:n.3030+144A>T
ENST00000484298.5:c.8217A>T	ENSP00000478155.1:p.Gln2739His
ENST00000613296.4:c.8343A>T	ENSP00000482968.1:p.Gln2781His
ENST00000614410.4:c.8343A>T	ENSP00000479094.1:p.Gln2781His
ENST00000620466.4:n.2146A>T
NM_015120.4:c.8346A>T , LRG_741t1:c.8346A>T	NP_055935.4:p.Gln2782His
NM_001378454.1:c.8343A>T MANE Select	NP_001365383.1:p.Gln2781His