Canonical Allele Identifier: CA347283628
Gene: ALMS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572432C>A , CM000664.2:g.73572432C>A GRCh38
NC_000002.11:g.73799559C>A , CM000664.1:g.73799559C>A GRCh37
NC_000002.10:g.73653067C>A NCBI36
NG_011690.1:g.191680C>A , LRG_741:g.191680C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.10174C>A ENSP00000507671.1:p.Pro3392Thr
ENST00000682801.1:c.10174C>A ENSP00000507862.1:p.Pro3392Thr
ENST00000682859.1:c.10174C>A ENSP00000508222.1:p.Pro3392Thr
ENST00000683791.1:c.3260C>A
ENST00000684460.1:c.7455C>A
ENST00000684548.1:c.10174C>A ENSP00000507421.1:p.Pro3392Thr
ENST00000684590.1:c.4621C>A ENSP00000507376.1:p.Pro1541Thr
ENST00000684656.1:c.7500C>A
ENST00000613296.6:c.10555C>A MANE Select ENSP00000482968.1:p.Pro3519Thr
ENST00000651057.1:c.709C>A ENSP00000498504.1:p.Pro237Thr
ENST00000651434.1:c.1911C>A
ENST00000652487.1:c.1652C>A
ENST00000423048.5:c.4046C>A ENSP00000399833.1:n.4046C>A
ENST00000484298.5:c.10429C>A ENSP00000478155.1:p.Pro3477Thr
ENST00000613296.4:c.10555C>A ENSP00000482968.1:p.Pro3519Thr
ENST00000614410.4:c.10555C>A ENSP00000479094.1:p.Pro3519Thr
ENST00000620466.4:n.4358C>A
NM_015120.4:c.10558C>A , LRG_741t1:c.10558C>A NP_055935.4:p.Pro3520Thr
NM_001378454.1:c.10555C>A MANE Select NP_001365383.1:p.Pro3519Thr