Canonical Allele Identifier: CA1260998628

Gene: ALMS1

Linked Data

• dbSNP Id: rs1673763963

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73525224T>C , CM000664.2:g.73525224T>C	GRCh38
NC_000002.11:g.73752351T>C , CM000664.1:g.73752351T>C	GRCh37
NC_000002.10:g.73605859T>C	NCBI36
NG_011690.1:g.144472T>C , LRG_741:g.144472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9400+5208T>C	ENSP00000507671.1:n.9400+5208T>C
ENST00000682801.1:c.9400+5208T>C	ENSP00000507862.1:n.9400+5208T>C
ENST00000682859.1:c.9400+5208T>C	ENSP00000508222.1:n.9400+5208T>C
ENST00000683791.1:c.2792+5208T>C
ENST00000684460.1:c.6852+5208T>C
ENST00000684548.1:c.9400+5208T>C	ENSP00000507421.1:n.9400+5208T>C
ENST00000684590.1:c.3847+5208T>C	ENSP00000507376.1:n.3847+5208T>C
ENST00000684656.1:c.6852+5208T>C
ENST00000613296.6:c.9781+5208T>C MANE Select	ENSP00000482968.1:n.9781+5208T>C
ENST00000651057.1:c.61+5208T>C	ENSP00000498504.1:n.61+5208T>C
ENST00000651434.1:c.1137+5208T>C
ENST00000652487.1:c.878+5208T>C
ENST00000423048.5:c.3272+5208T>C	ENSP00000399833.1:n.3272+5208T>C
ENST00000476650.2:n.72+5208T>C
ENST00000484298.5:c.9655+5208T>C	ENSP00000478155.1:n.9655+5208T>C
ENST00000613296.4:c.9781+5208T>C	ENSP00000482968.1:n.9781+5208T>C
ENST00000614410.4:c.9781+5208T>C	ENSP00000479094.1:n.9781+5208T>C
ENST00000620466.4:n.3584+5208T>C
NM_015120.4:c.9784+5208T>C , LRG_741t1:c.9784+5208T>C	NP_055935.4:n.9784+5208T>C
NM_001378454.1:c.9781+5208T>C MANE Select	NP_001365383.1:n.9781+5208T>C