Canonical Allele Identifier: CA383832176

Gene: A2ML1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8850205A>G , CM000674.2:g.8850205A>G	GRCh38
NC_000012.11:g.9002801A>G , CM000674.1:g.9002801A>G	GRCh37
NC_000012.10:g.8894068A>G	NCBI36
NG_042857.1:g.32734A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_144670.6:c.2165A>G MANE Select	NP_653271.3:p.His722Arg
ENST00000299698.12:c.2165A>G MANE Select	ENSP00000299698.7:p.His722Arg
NM_001282424.1:c.692A>G	NP_001269353.1:p.His231Arg
NM_001282424.2:c.692A>G	NP_001269353.1:p.His231Arg
NM_001282424.3:c.692A>G	NP_001269353.2:p.His231Arg
NM_144670.4:c.2165A>G	NP_653271.2:p.His722Arg
NM_144670.5:c.2165A>G	NP_653271.2:p.His722Arg
ENST00000299698.11:c.2165A>G	ENSP00000299698.7:p.His722Arg
ENST00000539547.5:c.692A>G	ENSP00000438292.1:p.His231Arg
ENST00000541459.5:c.815A>G	ENSP00000443174.1:p.His272Arg
XM_011520566.1:c.2204A>G	XP_011518868.1:p.His735Arg
XM_011520566.2:c.2204A>G	XP_011518868.1:p.His735Arg
XM_011520567.1:c.2204A>G	XP_011518869.1:p.His735Arg
XM_011520567.2:c.2204A>G	XP_011518869.1:p.His735Arg
XM_017018868.1:c.2201A>G	XP_016874357.1:p.His734Arg
XM_017018869.1:c.2201A>G	XP_016874358.1:p.His734Arg
XM_017018870.1:c.2165A>G	XP_016874359.1:p.His722Arg
XR_001748594.1:n.2263A>G
XR_931275.1:n.2302A>G