Canonical Allele Identifier: CA1261021996

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572828C= , CM000664.2:g.73572828C=	GRCh38
NC_000002.11:g.73799955C= , CM000664.1:g.73799955C=	GRCh37
NC_000002.10:g.73653463C=	NCBI36
NG_011690.1:g.192076C= , LRG_741:g.192076C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10570C=	ENSP00000507671.1:p.His3524=
ENST00000682801.1:c.10570C=	ENSP00000507862.1:p.His3524=
ENST00000682859.1:c.10570C=	ENSP00000508222.1:p.His3524=
ENST00000683791.1:c.3656C=
ENST00000684460.1:c.7851C=
ENST00000684548.1:c.10570C=	ENSP00000507421.1:p.His3524=
ENST00000684590.1:c.5017C=	ENSP00000507376.1:p.His1673=
ENST00000684656.1:c.7896C=
ENST00000613296.6:c.10951C= MANE Select	ENSP00000482968.1:p.His3651=
ENST00000651057.1:c.1105C=	ENSP00000498504.1:p.His369=
ENST00000651434.1:c.2307C=
ENST00000651750.1:c.339C=
ENST00000652487.1:c.2048C=
ENST00000423048.5:c.4442C=	ENSP00000399833.1:n.4442C=
ENST00000484298.5:c.10825C=	ENSP00000478155.1:p.His3609=
ENST00000613296.4:c.10951C=	ENSP00000482968.1:p.His3651=
ENST00000614410.4:c.10951C=	ENSP00000479094.1:p.His3651=
ENST00000620466.4:n.4754C=
NM_015120.4:c.10954C= , LRG_741t1:c.10954C=	NP_055935.4:p.His3652=
NM_001378454.1:c.10951C= MANE Select	NP_001365383.1:p.His3651=