Canonical Allele Identifier: CA354435
Gene: A2ML1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.8851954G>A
GRCh37 chr12:g.9004550G>A
Revel Score:
ENST00000299698 (MANE Select) 0.759
ENST00000539161 0.759
ENST00000541459 0.759
ENST00000539547 0.759
gnomAD v2:
12:9004550 G / A
gnomAD v3:
12:8851954 G / A
gnomAD v4:
chr12-8851954-G-A
Joint Max Group AF 0.00137049 (SAS)
Genomes Max Group AF 0.00175532 (SAS)
Exomes Max Group AF 0.0012961 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8851954G>A , CM000674.2:g.8851954G>A GRCh38
NC_000012.11:g.9004550G>A , CM000674.1:g.9004550G>A GRCh37
NC_000012.10:g.8895817G>A NCBI36
NG_042857.1:g.34483G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299698.12:c.2405G>A MANE Select ENSP00000299698.7:p.Arg802His
ENST00000299698.11:c.2405G>A ENSP00000299698.7:p.Arg802His
ENST00000539547.5:c.932G>A ENSP00000438292.1:p.Arg311His
ENST00000541459.5:c.1055G>A ENSP00000443174.1:p.Arg352His
NM_001282424.1:c.932G>A NP_001269353.1:p.Arg311His
NM_001282424.2:c.932G>A NP_001269353.1:p.Arg311His
NM_144670.4:c.2405G>A NP_653271.2:p.Arg802His
NM_144670.5:c.2405G>A NP_653271.2:p.Arg802His
XM_011520566.1:c.2444G>A XP_011518868.1:p.Arg815His
XM_011520567.1:c.2444G>A XP_011518869.1:p.Arg815His
XR_931275.1:n.2542G>A
XM_011520566.2:c.2444G>A XP_011518868.1:p.Arg815His
XM_011520567.2:c.2444G>A XP_011518869.1:p.Arg815His
XM_017018868.1:c.2441G>A XP_016874357.1:p.Arg814His
XM_017018869.1:c.2441G>A XP_016874358.1:p.Arg814His
XM_017018870.1:c.2405G>A XP_016874359.1:p.Arg802His
XR_001748594.1:n.2503G>A
NM_144670.6:c.2405G>A MANE Select NP_653271.3:p.Arg802His
NM_001282424.3:c.932G>A NP_001269353.2:p.Arg311His
Search 100 bp 5'
Search 100 bp 3'