Canonical Allele Identifier: CA347260320

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73424429G>C , CM000664.2:g.73424429G>C	GRCh38
NC_000002.11:g.73651557G>C , CM000664.1:g.73651557G>C	GRCh37
NC_000002.10:g.73505065G>C	NCBI36
NG_011690.1:g.43675G>C , LRG_741:g.43675G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.765-1G>C MANE Select	NP_001365383.1:n.765-1G>C
ENST00000613296.6:c.765-1G>C MANE Select	ENSP00000482968.1:n.765-1G>C
NM_015120.4:c.768-1G>C , LRG_741t1:c.768-1G>C	NP_055935.4:n.768-1G>C
ENST00000484298.5:c.639-1G>C	ENSP00000478155.1:n.639-1G>C
ENST00000613296.4:c.765-1G>C	ENSP00000482968.1:n.765-1G>C
ENST00000614410.4:c.765-1G>C	ENSP00000479094.1:n.765-1G>C
ENST00000682565.1:c.315-1G>C	ENSP00000507671.1:n.315-1G>C
ENST00000682675.1:n.725-1G>C
ENST00000682801.1:c.315-1G>C	ENSP00000507862.1:n.315-1G>C
ENST00000682859.1:c.315-1G>C	ENSP00000508222.1:n.315-1G>C
ENST00000682889.1:n.730-1G>C
ENST00000683791.1:c.119-1G>C
ENST00000684548.1:c.315-1G>C	ENSP00000507421.1:n.315-1G>C