Canonical Allele Identifier: CA1261021246

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572516A= , CM000664.2:g.73572516A=	GRCh38
NC_000002.11:g.73799643A= , CM000664.1:g.73799643A=	GRCh37
NC_000002.10:g.73653151A=	NCBI36
NG_011690.1:g.191764A= , LRG_741:g.191764A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10258A=	ENSP00000507671.1:p.Ser3420=
ENST00000682801.1:c.10258A=	ENSP00000507862.1:p.Ser3420=
ENST00000682859.1:c.10258A=	ENSP00000508222.1:p.Ser3420=
ENST00000683791.1:c.3344A=
ENST00000684460.1:c.7539A=
ENST00000684548.1:c.10258A=	ENSP00000507421.1:p.Ser3420=
ENST00000684590.1:c.4705A=	ENSP00000507376.1:p.Ser1569=
ENST00000684656.1:c.7584A=
ENST00000613296.6:c.10639A= MANE Select	ENSP00000482968.1:p.Ser3547=
ENST00000651057.1:c.793A=	ENSP00000498504.1:p.Ser265=
ENST00000651434.1:c.1995A=
ENST00000651750.1:c.27A=
ENST00000652487.1:c.1736A=
ENST00000423048.5:c.4130A=	ENSP00000399833.1:n.4130A=
ENST00000484298.5:c.10513A=	ENSP00000478155.1:p.Ser3505=
ENST00000613296.4:c.10639A=	ENSP00000482968.1:p.Ser3547=
ENST00000614410.4:c.10639A=	ENSP00000479094.1:p.Ser3547=
ENST00000620466.4:n.4442A=
NM_015120.4:c.10642A= , LRG_741t1:c.10642A=	NP_055935.4:p.Ser3548=
NM_001378454.1:c.10639A= MANE Select	NP_001365383.1:p.Ser3547=