Canonical Allele Identifier: CA1261021949

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572802A= , CM000664.2:g.73572802A=	GRCh38
NC_000002.11:g.73799929A= , CM000664.1:g.73799929A=	GRCh37
NC_000002.10:g.73653437A=	NCBI36
NG_011690.1:g.192050A= , LRG_741:g.192050A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10544A=	ENSP00000507671.1:p.His3515=
ENST00000682801.1:c.10544A=	ENSP00000507862.1:p.His3515=
ENST00000682859.1:c.10544A=	ENSP00000508222.1:p.His3515=
ENST00000683791.1:c.3630A=
ENST00000684460.1:c.7825A=
ENST00000684548.1:c.10544A=	ENSP00000507421.1:p.His3515=
ENST00000684590.1:c.4991A=	ENSP00000507376.1:p.His1664=
ENST00000684656.1:c.7870A=
ENST00000613296.6:c.10925A= MANE Select	ENSP00000482968.1:p.His3642=
ENST00000651057.1:c.1079A=	ENSP00000498504.1:p.His360=
ENST00000651434.1:c.2281A=
ENST00000651750.1:c.313A=
ENST00000652487.1:c.2022A=
ENST00000423048.5:c.4416A=	ENSP00000399833.1:n.4416A=
ENST00000484298.5:c.10799A=	ENSP00000478155.1:p.His3600=
ENST00000613296.4:c.10925A=	ENSP00000482968.1:p.His3642=
ENST00000614410.4:c.10925A=	ENSP00000479094.1:p.His3642=
ENST00000620466.4:n.4728A=
NM_015120.4:c.10928A= , LRG_741t1:c.10928A=	NP_055935.4:p.His3643=
NM_001378454.1:c.10925A= MANE Select	NP_001365383.1:p.His3642=