Canonical Allele Identifier: CA347262725

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73432293T>A , CM000664.2:g.73432293T>A	GRCh38
NC_000002.11:g.73659421T>A , CM000664.1:g.73659421T>A	GRCh37
NC_000002.10:g.73512929T>A	NCBI36
NG_011690.1:g.51539T>A , LRG_741:g.51539T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1432+2T>A MANE Select	NP_001365383.1:n.1432+2T>A
ENST00000613296.6:c.1432+2T>A MANE Select	ENSP00000482968.1:n.1432+2T>A
NM_015120.4:c.1435+2T>A , LRG_741t1:c.1435+2T>A	NP_055935.4:n.1435+2T>A
ENST00000484298.5:c.1306+2T>A	ENSP00000478155.1:n.1306+2T>A
ENST00000613296.4:c.1432+2T>A	ENSP00000482968.1:n.1432+2T>A
ENST00000614410.4:c.1432+2T>A	ENSP00000479094.1:n.1432+2T>A
ENST00000682565.1:c.1051+2T>A	ENSP00000507671.1:n.1051+2T>A
ENST00000682801.1:c.1051+2T>A	ENSP00000507862.1:n.1051+2T>A
ENST00000682859.1:c.1051+2T>A	ENSP00000508222.1:n.1051+2T>A
ENST00000682889.1:n.1397+2T>A
ENST00000683791.1:c.685+2T>A
ENST00000684548.1:c.1051+2T>A	ENSP00000507421.1:n.1051+2T>A