Canonical Allele Identifier: CA1260995940

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519717T= , CM000664.2:g.73519717T=	GRCh38
NC_000002.11:g.73746844T= , CM000664.1:g.73746844T=	GRCh37
NC_000002.10:g.73600352T=	NCBI36
NG_011690.1:g.138965T= , LRG_741:g.138965T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.9159-58T=	ENSP00000507671.1:n.9159-58T=
ENST00000682801.1:c.9159-58T=	ENSP00000507862.1:n.9159-58T=
ENST00000682859.1:c.9159-58T=	ENSP00000508222.1:n.9159-58T=
ENST00000683791.1:c.2551-58T=
ENST00000684460.1:c.6611-58T=
ENST00000684548.1:c.9159-58T=	ENSP00000507421.1:n.9159-58T=
ENST00000684590.1:c.3606-58T=	ENSP00000507376.1:n.3606-58T=
ENST00000684656.1:c.6611-58T=
ENST00000613296.6:c.9540-58T= MANE Select	ENSP00000482968.1:n.9540-58T=
ENST00000651434.1:c.896-58T=
ENST00000652487.1:c.637-58T=
ENST00000423048.5:c.3031-58T=	ENSP00000399833.1:n.3031-58T=
ENST00000484298.5:c.9414-58T=	ENSP00000478155.1:n.9414-58T=
ENST00000613296.4:c.9540-58T=	ENSP00000482968.1:n.9540-58T=
ENST00000614410.4:c.9540-58T=	ENSP00000479094.1:n.9540-58T=
ENST00000620466.4:n.3343-58T=
NM_015120.4:c.9543-58T= , LRG_741t1:c.9543-58T=	NP_055935.4:n.9543-58T=
NM_001378454.1:c.9540-58T= MANE Select	NP_001365383.1:n.9540-58T=