Canonical Allele Identifier: CA533669765

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73534820T>C , CM000664.2:g.73534820T>C	GRCh38
NC_000002.11:g.73761947T>C , CM000664.1:g.73761947T>C	GRCh37
NC_000002.10:g.73615455T>C	NCBI36
NG_011690.1:g.154068T>C , LRG_741:g.154068T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9782-4T>C MANE Select	NP_001365383.1:n.9782-4T>C
ENST00000613296.6:c.9782-4T>C MANE Select	ENSP00000482968.1:n.9782-4T>C
NM_015120.4:c.9785-4T>C , LRG_741t1:c.9785-4T>C	NP_055935.4:n.9785-4T>C
ENST00000423048.5:c.3273-4T>C	ENSP00000399833.1:n.3273-4T>C
ENST00000476650.2:n.73-4T>C
ENST00000484298.5:c.9656-4T>C	ENSP00000478155.1:n.9656-4T>C
ENST00000613296.4:c.9782-4T>C	ENSP00000482968.1:n.9782-4T>C
ENST00000614410.4:c.9782-4T>C	ENSP00000479094.1:n.9782-4T>C
ENST00000620466.4:n.3585-4T>C
ENST00000651057.1:c.61+14804T>C	ENSP00000498504.1:n.61+14804T>C
ENST00000651434.1:c.1138-4T>C
ENST00000652487.1:c.879-4T>C
ENST00000682565.1:c.9401-4T>C	ENSP00000507671.1:n.9401-4T>C
ENST00000682801.1:c.9401-4T>C	ENSP00000507862.1:n.9401-4T>C
ENST00000682859.1:c.9401-4T>C	ENSP00000508222.1:n.9401-4T>C
ENST00000683791.1:c.2793-4T>C
ENST00000684460.1:c.6853-4T>C
ENST00000684548.1:c.9401-4T>C	ENSP00000507421.1:n.9401-4T>C
ENST00000684590.1:c.3848-4T>C	ENSP00000507376.1:n.3848-4T>C
ENST00000684656.1:c.6852+14804T>C