Canonical Allele Identifier: CA427024316

Gene: ALMS1

Linked Data

• dbSNP Id: rs375046790
• gnomAD v4: 2-73572317-A-T
• MyVariant Identifiers: chr2:g.73799444A>T (hg19) ; chr2:g.73572317A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572317A>T , CM000664.2:g.73572317A>T	GRCh38
NC_000002.11:g.73799444A>T , CM000664.1:g.73799444A>T	GRCh37
NC_000002.10:g.73652952A>T	NCBI36
NG_011690.1:g.191565A>T , LRG_741:g.191565A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10059A>T	ENSP00000507671.1:p.Ala3353=
ENST00000682801.1:c.10059A>T	ENSP00000507862.1:p.Ala3353=
ENST00000682859.1:c.10059A>T	ENSP00000508222.1:p.Ala3353=
ENST00000683791.1:c.3145A>T
ENST00000684460.1:c.7340A>T
ENST00000684548.1:c.10059A>T	ENSP00000507421.1:p.Ala3353=
ENST00000684590.1:c.4506A>T	ENSP00000507376.1:p.Ala1502=
ENST00000684656.1:c.7385A>T
ENST00000613296.6:c.10440A>T MANE Select	ENSP00000482968.1:p.Ala3480=
ENST00000651057.1:c.594A>T	ENSP00000498504.1:p.Ala198=
ENST00000651434.1:c.1796A>T
ENST00000652487.1:c.1537A>T
ENST00000423048.5:c.3931A>T	ENSP00000399833.1:n.3931A>T
ENST00000484298.5:c.10314A>T	ENSP00000478155.1:p.Ala3438=
ENST00000613296.4:c.10440A>T	ENSP00000482968.1:p.Ala3480=
ENST00000614410.4:c.10440A>T	ENSP00000479094.1:p.Ala3480=
ENST00000620466.4:n.4243A>T
NM_015120.4:c.10443A>T , LRG_741t1:c.10443A>T	NP_055935.4:p.Ala3481=
NM_001378454.1:c.10440A>T MANE Select	NP_001365383.1:p.Ala3480=