Canonical Allele Identifier: CA1714705

Gene: ALMS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519824T>A , CM000664.2:g.73519824T>A	GRCh38
NC_000002.11:g.73746951T>A , CM000664.1:g.73746951T>A	GRCh37
NC_000002.10:g.73600459T>A	NCBI36
NG_011690.1:g.139072T>A , LRG_741:g.139072T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9208T>A	ENSP00000507671.1:p.Ser3070Thr
ENST00000682801.1:c.9208T>A	ENSP00000507862.1:p.Ser3070Thr
ENST00000682859.1:c.9208T>A	ENSP00000508222.1:p.Ser3070Thr
ENST00000683791.1:c.2600T>A
ENST00000684460.1:c.6660T>A
ENST00000684548.1:c.9208T>A	ENSP00000507421.1:p.Ser3070Thr
ENST00000684590.1:c.3655T>A	ENSP00000507376.1:p.Ser1219Thr
ENST00000684656.1:c.6660T>A
ENST00000613296.6:c.9589T>A MANE Select	ENSP00000482968.1:p.Ser3197Thr
ENST00000651434.1:c.945T>A
ENST00000652487.1:c.686T>A
ENST00000423048.5:c.3080T>A	ENSP00000399833.1:n.3080T>A
ENST00000484298.5:c.9463T>A	ENSP00000478155.1:p.Ser3155Thr
ENST00000613296.4:c.9589T>A	ENSP00000482968.1:p.Ser3197Thr
ENST00000614410.4:c.9589T>A	ENSP00000479094.1:p.Ser3197Thr
ENST00000620466.4:n.3392T>A
NM_015120.4:c.9592T>A , LRG_741t1:c.9592T>A	NP_055935.4:p.Ser3198Thr
NM_001378454.1:c.9589T>A MANE Select	NP_001365383.1:p.Ser3197Thr