Canonical Allele Identifier: CA693101941

Gene: A2ML1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8847209A>G , CM000674.2:g.8847209A>G	GRCh38
NC_000012.11:g.8999805A>G , CM000674.1:g.8999805A>G	GRCh37
NC_000012.10:g.8891072A>G	NCBI36
NG_042857.1:g.29738A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_144670.6:c.1684-340A>G MANE Select	NP_653271.3:n.1684-340A>G
ENST00000299698.12:c.1684-340A>G MANE Select	ENSP00000299698.7:n.1684-340A>G
NM_001282424.1:c.211-340A>G	NP_001269353.1:n.211-340A>G
NM_001282424.2:c.211-340A>G	NP_001269353.1:n.211-340A>G
NM_001282424.3:c.211-340A>G	NP_001269353.2:n.211-340A>G
NM_144670.4:c.1684-340A>G	NP_653271.2:n.1684-340A>G
NM_144670.5:c.1684-340A>G	NP_653271.2:n.1684-340A>G
ENST00000299698.11:c.1684-340A>G	ENSP00000299698.7:n.1684-340A>G
ENST00000539547.5:c.211-340A>G	ENSP00000438292.1:n.211-340A>G
ENST00000540049.1:n.367-340A>G
ENST00000541459.5:c.334-340A>G	ENSP00000443174.1:n.334-340A>G
ENST00000545692.1:c.220-340A>G	ENSP00000440057.1:n.220-340A>G
XM_011520566.1:c.1684-301A>G	XP_011518868.1:n.1684-301A>G
XM_011520566.2:c.1684-301A>G	XP_011518868.1:n.1684-301A>G
XM_011520567.1:c.1684-301A>G	XP_011518869.1:n.1684-301A>G
XM_011520567.2:c.1684-301A>G	XP_011518869.1:n.1684-301A>G
XM_017018868.1:c.1684-301A>G	XP_016874357.1:n.1684-301A>G
XM_017018869.1:c.1684-301A>G	XP_016874358.1:n.1684-301A>G
XM_017018870.1:c.1684-340A>G	XP_016874359.1:n.1684-340A>G
XR_001748594.1:n.1782-340A>G
XR_931275.1:n.1782-301A>G