Canonical Allele Identifier: CA1261020793
Gene: ALMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572268A= , CM000664.2:g.73572268A= GRCh38
NC_000002.11:g.73799395A= , CM000664.1:g.73799395A= GRCh37
NC_000002.10:g.73652903A= NCBI36
NG_011690.1:g.191516A= , LRG_741:g.191516A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.10010A= ENSP00000507671.1:p.Glu3337=
ENST00000682801.1:c.10010A= ENSP00000507862.1:p.Glu3337=
ENST00000682859.1:c.10010A= ENSP00000508222.1:p.Glu3337=
ENST00000683791.1:c.3096A=
ENST00000684460.1:c.7291A=
ENST00000684548.1:c.10010A= ENSP00000507421.1:p.Glu3337=
ENST00000684590.1:c.4457A= ENSP00000507376.1:p.Glu1486=
ENST00000684656.1:c.7336A=
ENST00000613296.6:c.10391A= MANE Select ENSP00000482968.1:p.Glu3464=
ENST00000651057.1:c.545A= ENSP00000498504.1:p.Glu182=
ENST00000651434.1:c.1747A=
ENST00000652487.1:c.1488A=
ENST00000423048.5:c.3882A= ENSP00000399833.1:n.3882A=
ENST00000484298.5:c.10265A= ENSP00000478155.1:p.Glu3422=
ENST00000613296.4:c.10391A= ENSP00000482968.1:p.Glu3464=
ENST00000614410.4:c.10391A= ENSP00000479094.1:p.Glu3464=
ENST00000620466.4:n.4194A=
NM_015120.4:c.10394A= , LRG_741t1:c.10394A= NP_055935.4:p.Glu3465=
NM_001378454.1:c.10391A= MANE Select NP_001365383.1:p.Glu3464=