Canonical Allele Identifier: CA1713629

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450576A>G , CM000664.2:g.73450576A>G	GRCh38
NC_000002.11:g.73677703A>G , CM000664.1:g.73677703A>G	GRCh37
NC_000002.10:g.73531211A>G	NCBI36
NG_011690.1:g.69824A>G , LRG_741:g.69824A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.4049A>G MANE Select	NP_001365383.1:p.His1350Arg
ENST00000613296.6:c.4049A>G MANE Select	ENSP00000482968.1:p.His1350Arg
NM_015120.4:c.4052A>G , LRG_741t1:c.4052A>G	NP_055935.4:p.His1351Arg
ENST00000484298.5:c.3923A>G	ENSP00000478155.1:p.His1308Arg
ENST00000613296.4:c.4049A>G	ENSP00000482968.1:p.His1350Arg
ENST00000614410.4:c.4049A>G	ENSP00000479094.1:p.His1350Arg
ENST00000682565.1:c.3668A>G	ENSP00000507671.1:p.His1223Arg
ENST00000682801.1:c.3668A>G	ENSP00000507862.1:p.His1223Arg
ENST00000682859.1:c.3668A>G	ENSP00000508222.1:p.His1223Arg
ENST00000683791.1:c.685+18285A>G
ENST00000684460.1:c.1120A>G
ENST00000684548.1:c.3668A>G	ENSP00000507421.1:p.His1223Arg
ENST00000684656.1:c.1120A>G