Canonical Allele Identifier: CA1713657

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450726A>G , CM000664.2:g.73450726A>G	GRCh38
NC_000002.11:g.73677853A>G , CM000664.1:g.73677853A>G	GRCh37
NC_000002.10:g.73531361A>G	NCBI36
NG_011690.1:g.69974A>G , LRG_741:g.69974A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.4199A>G MANE Select	NP_001365383.1:p.His1400Arg
ENST00000613296.6:c.4199A>G MANE Select	ENSP00000482968.1:p.His1400Arg
NM_015120.4:c.4202A>G , LRG_741t1:c.4202A>G	NP_055935.4:p.His1401Arg
ENST00000484298.5:c.4073A>G	ENSP00000478155.1:p.His1358Arg
ENST00000613296.4:c.4199A>G	ENSP00000482968.1:p.His1400Arg
ENST00000614410.4:c.4199A>G	ENSP00000479094.1:p.His1400Arg
ENST00000682565.1:c.3818A>G	ENSP00000507671.1:p.His1273Arg
ENST00000682801.1:c.3818A>G	ENSP00000507862.1:p.His1273Arg
ENST00000682859.1:c.3818A>G	ENSP00000508222.1:p.His1273Arg
ENST00000683791.1:c.685+18435A>G
ENST00000684460.1:c.1270A>G
ENST00000684548.1:c.3818A>G	ENSP00000507421.1:p.His1273Arg
ENST00000684656.1:c.1270A>G