Canonical Allele Identifier: CA357931

Gene: AMOT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.112791832C>G , CM000685.2:g.112791832C>G	GRCh38
NC_000023.10:g.112035060C>G , CM000685.1:g.112035060C>G	GRCh37
NC_000023.9:g.111921716C>G	NCBI36
NG_012628.1:g.53984G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001113490.2:c.1926G>C MANE Select	NP_001106962.1:p.Gln642His
ENST00000371959.9:c.1926G>C MANE Select	ENSP00000361027.3:p.Gln642His
NM_001113490.1:c.1926G>C	NP_001106962.1:p.Gln642His
NM_001386998.1:c.1926G>C	NP_001373927.1:p.Gln642His
NM_001386999.1:c.1926G>C	NP_001373928.1:p.Gln642His
NM_133265.2:c.699G>C	NP_573572.1:p.Gln233His
NM_133265.3:c.699G>C	NP_573572.1:p.Gln233His
NM_133265.5:c.699G>C	NP_573572.1:p.Gln233His
ENST00000304758.5:c.699G>C	ENSP00000305557.1:p.Gln233His
ENST00000371958.1:c.1230G>C	ENSP00000361026.1:p.Gln410His
ENST00000371959.7:c.1926G>C	ENSP00000361027.3:p.Gln642His
ENST00000371959.8:c.1926G>C	ENSP00000361027.3:p.Gln642His
ENST00000371962.5:c.1230G>C	ENSP00000361030.1:p.Gln410His
ENST00000524145.5:c.1926G>C	ENSP00000429013.1:p.Gln642His
XM_005262087.1:c.1926G>C	XP_005262144.1:p.Gln642His
XM_005262088.2:c.1926G>C	XP_005262145.1:p.Gln642His
XM_005262090.1:c.699G>C	XP_005262147.1:p.Gln233His
XM_011530875.1:c.1926G>C	XP_011529177.1:p.Gln642His
XM_011530875.2:c.1926G>C	XP_011529177.1:p.Gln642His
XM_017029289.1:c.699G>C	XP_016884778.1:p.Gln233His