Canonical Allele Identifier: CA356467

Gene: A2ML1

Linked Data

• ClinVar Variation Id: 224929
• ClinVar RCV Id: RCV000210521 ; RCV000858024 ; RCV002478760
• dbSNP Id: rs185519272
• ExAC: 12:8975911 C / T
• gnomAD v2: 12-8975911-C-T
• gnomAD v3: 12-8823315-C-T
• gnomAD v4: 12-8823315-C-T
• MyVariant Identifiers: chr12:g.8975911C>T (hg19) ; chr12:g.8823315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8823315C>T , CM000674.2:g.8823315C>T	GRCh38
NC_000012.11:g.8975911C>T , CM000674.1:g.8975911C>T	GRCh37
NC_000012.10:g.8867178C>T	NCBI36
NG_042857.1:g.5844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.196C>T MANE Select	ENSP00000299698.7:p.Leu66=
ENST00000299698.11:c.196C>T	ENSP00000299698.7:p.Leu66=
NM_144670.4:c.196C>T	NP_653271.2:p.Leu66=
NM_144670.5:c.196C>T	NP_653271.2:p.Leu66=
XM_011520566.1:c.196C>T	XP_011518868.1:p.Leu66=
XM_011520567.1:c.196C>T	XP_011518869.1:p.Leu66=
XR_931275.1:n.294C>T
XM_011520566.2:c.196C>T	XP_011518868.1:p.Leu66=
XM_011520567.2:c.196C>T	XP_011518869.1:p.Leu66=
XM_017018868.1:c.196C>T	XP_016874357.1:p.Leu66=
XM_017018869.1:c.196C>T	XP_016874358.1:p.Leu66=
XM_017018870.1:c.196C>T	XP_016874359.1:p.Leu66=
XR_001748594.1:n.294C>T
NM_144670.6:c.196C>T MANE Select	NP_653271.3:p.Leu66=