Canonical Allele Identifier: CA1715073

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572730G>A , CM000664.2:g.73572730G>A	GRCh38
NC_000002.11:g.73799857G>A , CM000664.1:g.73799857G>A	GRCh37
NC_000002.10:g.73653365G>A	NCBI36
NG_011690.1:g.191978G>A , LRG_741:g.191978G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10853G>A MANE Select	NP_001365383.1:p.Gly3618Asp
ENST00000613296.6:c.10853G>A MANE Select	ENSP00000482968.1:p.Gly3618Asp
NM_015120.4:c.10856G>A , LRG_741t1:c.10856G>A	NP_055935.4:p.Gly3619Asp
ENST00000423048.5:c.4344G>A	ENSP00000399833.1:n.4344G>A
ENST00000484298.5:c.10727G>A	ENSP00000478155.1:p.Gly3576Asp
ENST00000613296.4:c.10853G>A	ENSP00000482968.1:p.Gly3618Asp
ENST00000614410.4:c.10853G>A	ENSP00000479094.1:p.Gly3618Asp
ENST00000620466.4:n.4656G>A
ENST00000651057.1:c.1007G>A	ENSP00000498504.1:p.Gly336Asp
ENST00000651434.1:c.2209G>A
ENST00000651750.1:c.241G>A
ENST00000652487.1:c.1950G>A
ENST00000682565.1:c.10472G>A	ENSP00000507671.1:p.Gly3491Asp
ENST00000682801.1:c.10472G>A	ENSP00000507862.1:p.Gly3491Asp
ENST00000682859.1:c.10472G>A	ENSP00000508222.1:p.Gly3491Asp
ENST00000683791.1:c.3558G>A
ENST00000684460.1:c.7753G>A
ENST00000684548.1:c.10472G>A	ENSP00000507421.1:p.Gly3491Asp
ENST00000684590.1:c.4919G>A	ENSP00000507376.1:p.Gly1640Asp
ENST00000684656.1:c.7798G>A