Canonical Allele Identifier: CA1713904

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452093C>G , CM000664.2:g.73452093C>G	GRCh38
NC_000002.11:g.73679220C>G , CM000664.1:g.73679220C>G	GRCh37
NC_000002.10:g.73532728C>G	NCBI36
NG_011690.1:g.71341C>G , LRG_741:g.71341C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5566C>G MANE Select	NP_001365383.1:p.His1856Asp
ENST00000613296.6:c.5566C>G MANE Select	ENSP00000482968.1:p.His1856Asp
NM_015120.4:c.5569C>G , LRG_741t1:c.5569C>G	NP_055935.4:p.His1857Asp
ENST00000423048.5:c.397C>G	ENSP00000399833.1:p.His133Asp
ENST00000484298.5:c.5440C>G	ENSP00000478155.1:p.His1814Asp
ENST00000613296.4:c.5566C>G	ENSP00000482968.1:p.His1856Asp
ENST00000614410.4:c.5566C>G	ENSP00000479094.1:p.His1856Asp
ENST00000682565.1:c.5185C>G	ENSP00000507671.1:p.His1729Asp
ENST00000682801.1:c.5185C>G	ENSP00000507862.1:p.His1729Asp
ENST00000682859.1:c.5185C>G	ENSP00000508222.1:p.His1729Asp
ENST00000683791.1:c.685+19802C>G
ENST00000684197.1:n.535C>G
ENST00000684460.1:c.2637C>G
ENST00000684548.1:c.5185C>G	ENSP00000507421.1:p.His1729Asp
ENST00000684656.1:c.2637C>G