Canonical Allele Identifier: CA1261021753

Gene: ALMS1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10472G=	ENSP00000507671.1:p.Gly3491=
ENST00000682801.1:c.10472G=	ENSP00000507862.1:p.Gly3491=
ENST00000682859.1:c.10472G=	ENSP00000508222.1:p.Gly3491=
ENST00000683791.1:c.3558G=
ENST00000684460.1:c.7753G=
ENST00000684548.1:c.10472G=	ENSP00000507421.1:p.Gly3491=
ENST00000684590.1:c.4919G=	ENSP00000507376.1:p.Gly1640=
ENST00000684656.1:c.7798G=
ENST00000613296.6:c.10853G= MANE Select	ENSP00000482968.1:p.Gly3618=
ENST00000651057.1:c.1007G=	ENSP00000498504.1:p.Gly336=
ENST00000651434.1:c.2209G=
ENST00000651750.1:c.241G=
ENST00000652487.1:c.1950G=
ENST00000423048.5:c.4344G=	ENSP00000399833.1:n.4344G=
ENST00000484298.5:c.10727G=	ENSP00000478155.1:p.Gly3576=
ENST00000613296.4:c.10853G=	ENSP00000482968.1:p.Gly3618=
ENST00000614410.4:c.10853G=	ENSP00000479094.1:p.Gly3618=
ENST00000620466.4:n.4656G=
NM_015120.4:c.10856G= , LRG_741t1:c.10856G=	NP_055935.4:p.Gly3619=
NM_001378454.1:c.10853G= MANE Select	NP_001365383.1:p.Gly3618=