Canonical Allele Identifier: CA347276022
Gene: ALMS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73450135A>G , CM000664.2:g.73450135A>G GRCh38
NC_000002.11:g.73677262A>G , CM000664.1:g.73677262A>G GRCh37
NC_000002.10:g.73530770A>G NCBI36
NG_011690.1:g.69383A>G , LRG_741:g.69383A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.3227A>G ENSP00000507671.1:p.Gln1076Arg
ENST00000682801.1:c.3227A>G ENSP00000507862.1:p.Gln1076Arg
ENST00000682859.1:c.3227A>G ENSP00000508222.1:p.Gln1076Arg
ENST00000683791.1:c.685+17844A>G
ENST00000684460.1:c.679A>G
ENST00000684548.1:c.3227A>G ENSP00000507421.1:p.Gln1076Arg
ENST00000684656.1:c.679A>G
ENST00000613296.6:c.3608A>G MANE Select ENSP00000482968.1:p.Gln1203Arg
ENST00000484298.5:c.3482A>G ENSP00000478155.1:p.Gln1161Arg
ENST00000613296.4:c.3608A>G ENSP00000482968.1:p.Gln1203Arg
ENST00000614410.4:c.3608A>G ENSP00000479094.1:p.Gln1203Arg
NM_015120.4:c.3611A>G , LRG_741t1:c.3611A>G NP_055935.4:p.Gln1204Arg
NM_001378454.1:c.3608A>G MANE Select NP_001365383.1:p.Gln1203Arg