Canonical Allele Identifier: CA6435646
Gene: A2ML1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.8843302G>T
GRCh37 chr12:g.8995898G>T
Revel Score:
ENST00000299698 (MANE Select) 0.315
ENST00000539161 0.315
ENST00000541459 0.315
gnomAD v2:
12:8995898 G / T
gnomAD v3:
12:8843302 G / T
gnomAD v4:
chr12-8843302-G-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000503586
RCV001431314
ClinVar Variation:
434033
dbSNP:
201950472
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8843302G>T , CM000674.2:g.8843302G>T GRCh38
NC_000012.11:g.8995898G>T , CM000674.1:g.8995898G>T GRCh37
NC_000012.10:g.8887165G>T NCBI36
NG_042857.1:g.25831G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299698.12:c.1417G>T MANE Select ENSP00000299698.7:p.Asp473Tyr
ENST00000299698.11:c.1417G>T ENSP00000299698.7:p.Asp473Tyr
ENST00000541459.5:c.67G>T ENSP00000443174.1:p.Asp23Tyr
NM_144670.4:c.1417G>T NP_653271.2:p.Asp473Tyr
NM_144670.5:c.1417G>T NP_653271.2:p.Asp473Tyr
XM_011520566.1:c.1417G>T XP_011518868.1:p.Asp473Tyr
XM_011520567.1:c.1417G>T XP_011518869.1:p.Asp473Tyr
XR_931275.1:n.1515G>T
XM_011520566.2:c.1417G>T XP_011518868.1:p.Asp473Tyr
XM_011520567.2:c.1417G>T XP_011518869.1:p.Asp473Tyr
XM_017018868.1:c.1417G>T XP_016874357.1:p.Asp473Tyr
XM_017018869.1:c.1417G>T XP_016874358.1:p.Asp473Tyr
XM_017018870.1:c.1417G>T XP_016874359.1:p.Asp473Tyr
XR_001748594.1:n.1515G>T
NM_144670.6:c.1417G>T MANE Select NP_653271.3:p.Asp473Tyr
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