Canonical Allele Identifier: CA383823582

Gene: A2ML1

Linked Data

• dbSNP Id: rs1943384097
• gnomAD v4: 12-8839139-A-G
• MyVariant Identifiers: chr12:g.8991735A>G (hg19) ; chr12:g.8839139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839139A>G , CM000674.2:g.8839139A>G	GRCh38
NC_000012.11:g.8991735A>G , CM000674.1:g.8991735A>G	GRCh37
NC_000012.10:g.8883002A>G	NCBI36
NG_042857.1:g.21668A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.997A>G MANE Select	ENSP00000299698.7:p.Ile333Val
ENST00000299698.11:c.997A>G	ENSP00000299698.7:p.Ile333Val
NM_144670.4:c.997A>G	NP_653271.2:p.Ile333Val
NM_144670.5:c.997A>G	NP_653271.2:p.Ile333Val
XM_011520566.1:c.997A>G	XP_011518868.1:p.Ile333Val
XM_011520567.1:c.997A>G	XP_011518869.1:p.Ile333Val
XR_931275.1:n.1095A>G
XM_011520566.2:c.997A>G	XP_011518868.1:p.Ile333Val
XM_011520567.2:c.997A>G	XP_011518869.1:p.Ile333Val
XM_017018868.1:c.997A>G	XP_016874357.1:p.Ile333Val
XM_017018869.1:c.997A>G	XP_016874358.1:p.Ile333Val
XM_017018870.1:c.997A>G	XP_016874359.1:p.Ile333Val
XR_001748594.1:n.1095A>G
NM_144670.6:c.997A>G MANE Select	NP_653271.3:p.Ile333Val