Canonical Allele Identifier: CA427023984

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572749-C-A
• MyVariant Identifiers: chr2:g.73799876C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572749C>A , CM000664.2:g.73572749C>A	GRCh38
NC_000002.11:g.73799876C>A , CM000664.1:g.73799876C>A	GRCh37
NC_000002.10:g.73653384C>A	NCBI36
NG_011690.1:g.191997C>A , LRG_741:g.191997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10491C>A	ENSP00000507671.1:p.Ser3497=
ENST00000682801.1:c.10491C>A	ENSP00000507862.1:p.Ser3497=
ENST00000682859.1:c.10491C>A	ENSP00000508222.1:p.Ser3497=
ENST00000683791.1:c.3577C>A
ENST00000684460.1:c.7772C>A
ENST00000684548.1:c.10491C>A	ENSP00000507421.1:p.Ser3497=
ENST00000684590.1:c.4938C>A	ENSP00000507376.1:p.Ser1646=
ENST00000684656.1:c.7817C>A
ENST00000613296.6:c.10872C>A MANE Select	ENSP00000482968.1:p.Ser3624=
ENST00000651057.1:c.1026C>A	ENSP00000498504.1:p.Ser342=
ENST00000651434.1:c.2228C>A
ENST00000651750.1:c.260C>A
ENST00000652487.1:c.1969C>A
ENST00000423048.5:c.4363C>A	ENSP00000399833.1:n.4363C>A
ENST00000484298.5:c.10746C>A	ENSP00000478155.1:p.Ser3582=
ENST00000613296.4:c.10872C>A	ENSP00000482968.1:p.Ser3624=
ENST00000614410.4:c.10872C>A	ENSP00000479094.1:p.Ser3624=
ENST00000620466.4:n.4675C>A
NM_015120.4:c.10875C>A , LRG_741t1:c.10875C>A	NP_055935.4:p.Ser3625=
NM_001378454.1:c.10872C>A MANE Select	NP_001365383.1:p.Ser3624=