Canonical Allele Identifier: CA1261021244
Gene: ALMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572512A= , CM000664.2:g.73572512A= GRCh38
NC_000002.11:g.73799639A= , CM000664.1:g.73799639A= GRCh37
NC_000002.10:g.73653147A= NCBI36
NG_011690.1:g.191760A= , LRG_741:g.191760A=

Transcript Alleles

HGVS Amino-acid change
ENST00000682565.1:c.10254A= ENSP00000507671.1:p.Ile3418=
ENST00000682801.1:c.10254A= ENSP00000507862.1:p.Ile3418=
ENST00000682859.1:c.10254A= ENSP00000508222.1:p.Ile3418=
ENST00000683791.1:c.3340A=
ENST00000684460.1:c.7535A=
ENST00000684548.1:c.10254A= ENSP00000507421.1:p.Ile3418=
ENST00000684590.1:c.4701A= ENSP00000507376.1:p.Ile1567=
ENST00000684656.1:c.7580A=
ENST00000613296.6:c.10635A= MANE Select ENSP00000482968.1:p.Ile3545=
ENST00000651057.1:c.789A= ENSP00000498504.1:p.Ile263=
ENST00000651434.1:c.1991A=
ENST00000651750.1:c.23A=
ENST00000652487.1:c.1732A=
ENST00000423048.5:c.4126A= ENSP00000399833.1:n.4126A=
ENST00000484298.5:c.10509A= ENSP00000478155.1:p.Ile3503=
ENST00000613296.4:c.10635A= ENSP00000482968.1:p.Ile3545=
ENST00000614410.4:c.10635A= ENSP00000479094.1:p.Ile3545=
ENST00000620466.4:n.4438A=
NM_015120.4:c.10638A= , LRG_741t1:c.10638A= NP_055935.4:p.Ile3546=
NM_001378454.1:c.10635A= MANE Select NP_001365383.1:p.Ile3545=