Canonical Allele Identifier: CA347259898

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73422855A>T , CM000664.2:g.73422855A>T	GRCh38
NC_000002.11:g.73649983A>T , CM000664.1:g.73649983A>T	GRCh37
NC_000002.10:g.73503491A>T	NCBI36
NG_011690.1:g.42101A>T , LRG_741:g.42101A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.647-2A>T MANE Select	NP_001365383.1:n.647-2A>T
ENST00000613296.6:c.647-2A>T MANE Select	ENSP00000482968.1:n.647-2A>T
NM_015120.4:c.650-2A>T , LRG_741t1:c.650-2A>T	NP_055935.4:n.650-2A>T
ENST00000484298.5:c.521-2A>T	ENSP00000478155.1:n.521-2A>T
ENST00000613296.4:c.647-2A>T	ENSP00000482968.1:n.647-2A>T
ENST00000614410.4:c.647-2A>T	ENSP00000479094.1:n.647-2A>T
ENST00000682565.1:c.197-2A>T	ENSP00000507671.1:n.197-2A>T
ENST00000682675.1:n.607-2A>T
ENST00000682801.1:c.197-2A>T	ENSP00000507862.1:n.197-2A>T
ENST00000682859.1:c.197-2A>T	ENSP00000508222.1:n.197-2A>T
ENST00000682889.1:n.612-2A>T
ENST00000684548.1:c.197-2A>T	ENSP00000507421.1:n.197-2A>T