Canonical Allele Identifier: CA383823700

Gene: A2ML1

Linked Data

• ClinVar Variation Id: 1019847
• ClinVar RCV Id: RCV001319340 ; RCV004034963
• dbSNP Id: rs1437069980
• gnomAD v4: 12-8839186-C-G
• MyVariant Identifiers: chr12:g.8991782C>G (hg19) ; chr12:g.8839186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839186C>G , CM000674.2:g.8839186C>G	GRCh38
NC_000012.11:g.8991782C>G , CM000674.1:g.8991782C>G	GRCh37
NC_000012.10:g.8883049C>G	NCBI36
NG_042857.1:g.21715C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.1044C>G MANE Select	ENSP00000299698.7:p.Ser348Arg
ENST00000299698.11:c.1044C>G	ENSP00000299698.7:p.Ser348Arg
NM_144670.4:c.1044C>G	NP_653271.2:p.Ser348Arg
NM_144670.5:c.1044C>G	NP_653271.2:p.Ser348Arg
XM_011520566.1:c.1044C>G	XP_011518868.1:p.Ser348Arg
XM_011520567.1:c.1044C>G	XP_011518869.1:p.Ser348Arg
XR_931275.1:n.1142C>G
XM_011520566.2:c.1044C>G	XP_011518868.1:p.Ser348Arg
XM_011520567.2:c.1044C>G	XP_011518869.1:p.Ser348Arg
XM_017018868.1:c.1044C>G	XP_016874357.1:p.Ser348Arg
XM_017018869.1:c.1044C>G	XP_016874358.1:p.Ser348Arg
XM_017018870.1:c.1044C>G	XP_016874359.1:p.Ser348Arg
XR_001748594.1:n.1142C>G
NM_144670.6:c.1044C>G MANE Select	NP_653271.3:p.Ser348Arg