Canonical Allele Identifier: CA354435

Gene: A2ML1

Linked Data

• ClinVar Variation Id: 203519
• ClinVar RCV Id: RCV000185643 ; RCV001201332 ; RCV001251215 ; RCV003937655
• dbSNP Id: rs201562272
• ExAC: 12:9004550 G / A
• gnomAD v2: 12-9004550-G-A
• gnomAD v3: 12-8851954-G-A
• gnomAD v4: 12-8851954-G-A
• COSMIC: COSM3968481
• MyVariant Identifiers: chr12:g.9004550G>A (hg19) ; chr12:g.8851954G>A (hg38)
• PubMed: PMID:24939586

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