Canonical Allele Identifier: CA1713056

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73424818A>G , CM000664.2:g.73424818A>G	GRCh38
NC_000002.11:g.73651946A>G , CM000664.1:g.73651946A>G	GRCh37
NC_000002.10:g.73505454A>G	NCBI36
NG_011690.1:g.44064A>G , LRG_741:g.44064A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1153A>G MANE Select	NP_001365383.1:p.Ser385Gly
ENST00000613296.6:c.1153A>G MANE Select	ENSP00000482968.1:p.Ser385Gly
NM_015120.4:c.1156A>G , LRG_741t1:c.1156A>G	NP_055935.4:p.Ser386Gly
ENST00000484298.5:c.1027A>G	ENSP00000478155.1:p.Ser343Gly
ENST00000613296.4:c.1153A>G	ENSP00000482968.1:p.Ser385Gly
ENST00000614410.4:c.1153A>G	ENSP00000479094.1:p.Ser385Gly
ENST00000682565.1:c.703A>G	ENSP00000507671.1:p.Ser235Gly
ENST00000682675.1:n.1113A>G
ENST00000682801.1:c.703A>G	ENSP00000507862.1:p.Ser235Gly
ENST00000682859.1:c.703A>G	ENSP00000508222.1:p.Ser235Gly
ENST00000682889.1:n.1118A>G
ENST00000683791.1:c.507A>G
ENST00000684548.1:c.703A>G	ENSP00000507421.1:p.Ser235Gly