Canonical Allele Identifier: CA347284401

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674957817
• gnomAD v3: 2-73572516-A-G
• gnomAD v4: 2-73572516-A-G
• MyVariant Identifiers: chr2:g.73799643A>G (hg19) ; chr2:g.73572516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572516A>G , CM000664.2:g.73572516A>G	GRCh38
NC_000002.11:g.73799643A>G , CM000664.1:g.73799643A>G	GRCh37
NC_000002.10:g.73653151A>G	NCBI36
NG_011690.1:g.191764A>G , LRG_741:g.191764A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10258A>G	ENSP00000507671.1:p.Ser3420Gly
ENST00000682801.1:c.10258A>G	ENSP00000507862.1:p.Ser3420Gly
ENST00000682859.1:c.10258A>G	ENSP00000508222.1:p.Ser3420Gly
ENST00000683791.1:c.3344A>G
ENST00000684460.1:c.7539A>G
ENST00000684548.1:c.10258A>G	ENSP00000507421.1:p.Ser3420Gly
ENST00000684590.1:c.4705A>G	ENSP00000507376.1:p.Ser1569Gly
ENST00000684656.1:c.7584A>G
ENST00000613296.6:c.10639A>G MANE Select	ENSP00000482968.1:p.Ser3547Gly
ENST00000651057.1:c.793A>G	ENSP00000498504.1:p.Ser265Gly
ENST00000651434.1:c.1995A>G
ENST00000651750.1:c.27A>G
ENST00000652487.1:c.1736A>G
ENST00000423048.5:c.4130A>G	ENSP00000399833.1:n.4130A>G
ENST00000484298.5:c.10513A>G	ENSP00000478155.1:p.Ser3505Gly
ENST00000613296.4:c.10639A>G	ENSP00000482968.1:p.Ser3547Gly
ENST00000614410.4:c.10639A>G	ENSP00000479094.1:p.Ser3547Gly
ENST00000620466.4:n.4442A>G
NM_015120.4:c.10642A>G , LRG_741t1:c.10642A>G	NP_055935.4:p.Ser3548Gly
NM_001378454.1:c.10639A>G MANE Select	NP_001365383.1:p.Ser3547Gly