Canonical Allele Identifier: CA347285813

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572719G>T , CM000664.2:g.73572719G>T	GRCh38
NC_000002.11:g.73799846G>T , CM000664.1:g.73799846G>T	GRCh37
NC_000002.10:g.73653354G>T	NCBI36
NG_011690.1:g.191967G>T , LRG_741:g.191967G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10842G>T MANE Select	NP_001365383.1:p.Gln3614His
ENST00000613296.6:c.10842G>T MANE Select	ENSP00000482968.1:p.Gln3614His
NM_015120.4:c.10845G>T , LRG_741t1:c.10845G>T	NP_055935.4:p.Gln3615His
ENST00000423048.5:c.4333G>T	ENSP00000399833.1:n.4333G>T
ENST00000484298.5:c.10716G>T	ENSP00000478155.1:p.Gln3572His
ENST00000613296.4:c.10842G>T	ENSP00000482968.1:p.Gln3614His
ENST00000614410.4:c.10842G>T	ENSP00000479094.1:p.Gln3614His
ENST00000620466.4:n.4645G>T
ENST00000651057.1:c.996G>T	ENSP00000498504.1:p.Gln332His
ENST00000651434.1:c.2198G>T
ENST00000651750.1:c.230G>T
ENST00000652487.1:c.1939G>T
ENST00000682565.1:c.10461G>T	ENSP00000507671.1:p.Gln3487His
ENST00000682801.1:c.10461G>T	ENSP00000507862.1:p.Gln3487His
ENST00000682859.1:c.10461G>T	ENSP00000508222.1:p.Gln3487His
ENST00000683791.1:c.3547G>T
ENST00000684460.1:c.7742G>T
ENST00000684548.1:c.10461G>T	ENSP00000507421.1:p.Gln3487His
ENST00000684590.1:c.4908G>T	ENSP00000507376.1:p.Gln1636His
ENST00000684656.1:c.7787G>T