Canonical Allele Identifier: CA347284213

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572495-A-G
• MyVariant Identifiers: chr2:g.73799622A>G (hg19) ; chr2:g.73572495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572495A>G , CM000664.2:g.73572495A>G	GRCh38
NC_000002.11:g.73799622A>G , CM000664.1:g.73799622A>G	GRCh37
NC_000002.10:g.73653130A>G	NCBI36
NG_011690.1:g.191743A>G , LRG_741:g.191743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10237A>G	ENSP00000507671.1:p.Thr3413Ala
ENST00000682801.1:c.10237A>G	ENSP00000507862.1:p.Thr3413Ala
ENST00000682859.1:c.10237A>G	ENSP00000508222.1:p.Thr3413Ala
ENST00000683791.1:c.3323A>G
ENST00000684460.1:c.7518A>G
ENST00000684548.1:c.10237A>G	ENSP00000507421.1:p.Thr3413Ala
ENST00000684590.1:c.4684A>G	ENSP00000507376.1:p.Thr1562Ala
ENST00000684656.1:c.7563A>G
ENST00000613296.6:c.10618A>G MANE Select	ENSP00000482968.1:p.Thr3540Ala
ENST00000651057.1:c.772A>G	ENSP00000498504.1:p.Thr258Ala
ENST00000651434.1:c.1974A>G
ENST00000651750.1:c.6A>G
ENST00000652487.1:c.1715A>G
ENST00000423048.5:c.4109A>G	ENSP00000399833.1:n.4109A>G
ENST00000484298.5:c.10492A>G	ENSP00000478155.1:p.Thr3498Ala
ENST00000613296.4:c.10618A>G	ENSP00000482968.1:p.Thr3540Ala
ENST00000614410.4:c.10618A>G	ENSP00000479094.1:p.Thr3540Ala
ENST00000620466.4:n.4421A>G
NM_015120.4:c.10621A>G , LRG_741t1:c.10621A>G	NP_055935.4:p.Thr3541Ala
NM_001378454.1:c.10618A>G MANE Select	NP_001365383.1:p.Thr3540Ala