Canonical Allele Identifier: CA347263810

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73534947C>G , CM000664.2:g.73534947C>G	GRCh38
NC_000002.11:g.73762074C>G , CM000664.1:g.73762074C>G	GRCh37
NC_000002.10:g.73615582C>G	NCBI36
NG_011690.1:g.154195C>G , LRG_741:g.154195C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9905C>G MANE Select	NP_001365383.1:p.Ser3302Ter
ENST00000613296.6:c.9905C>G MANE Select	ENSP00000482968.1:p.Ser3302Ter
NM_015120.4:c.9908C>G , LRG_741t1:c.9908C>G	NP_055935.4:p.Ser3303Ter
ENST00000423048.5:c.3396C>G	ENSP00000399833.1:n.3396C>G
ENST00000476650.2:n.196C>G
ENST00000484298.5:c.9779C>G	ENSP00000478155.1:p.Ser3260Ter
ENST00000613296.4:c.9905C>G	ENSP00000482968.1:p.Ser3302Ter
ENST00000614410.4:c.9905C>G	ENSP00000479094.1:p.Ser3302Ter
ENST00000620466.4:n.3708C>G
ENST00000651057.1:c.61+14931C>G	ENSP00000498504.1:n.61+14931C>G
ENST00000651434.1:c.1261C>G
ENST00000652487.1:c.1002C>G
ENST00000682565.1:c.9524C>G	ENSP00000507671.1:p.Ser3175Ter
ENST00000682801.1:c.9524C>G	ENSP00000507862.1:p.Ser3175Ter
ENST00000682859.1:c.9524C>G	ENSP00000508222.1:p.Ser3175Ter
ENST00000683791.1:c.2916C>G
ENST00000684460.1:c.6976C>G
ENST00000684548.1:c.9524C>G	ENSP00000507421.1:p.Ser3175Ter
ENST00000684590.1:c.3971C>G	ENSP00000507376.1:p.Ser1324Ter
ENST00000684656.1:c.6852+14931C>G