Canonical Allele Identifier: CA6435520

Gene: A2ML1

Linked Data

• ClinVar Variation Id: 390945
• ClinVar RCV Id: RCV000435475 ; RCV001193836 ; RCV002393044
• dbSNP Id: rs201247776
• ExAC: 12:8991788 T / C
• gnomAD v2: 12-8991788-T-C
• gnomAD v3: 12-8839192-T-C
• gnomAD v4: 12-8839192-T-C
• MyVariant Identifiers: chr12:g.8991788T>C (hg19) ; chr12:g.8839192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839192T>C , CM000674.2:g.8839192T>C	GRCh38
NC_000012.11:g.8991788T>C , CM000674.1:g.8991788T>C	GRCh37
NC_000012.10:g.8883055T>C	NCBI36
NG_042857.1:g.21721T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299698.12:c.1050T>C MANE Select	ENSP00000299698.7:p.Phe350=
ENST00000299698.11:c.1050T>C	ENSP00000299698.7:p.Phe350=
NM_144670.4:c.1050T>C	NP_653271.2:p.Phe350=
NM_144670.5:c.1050T>C	NP_653271.2:p.Phe350=
XM_011520566.1:c.1050T>C	XP_011518868.1:p.Phe350=
XM_011520567.1:c.1050T>C	XP_011518869.1:p.Phe350=
XR_931275.1:n.1148T>C
XM_011520566.2:c.1050T>C	XP_011518868.1:p.Phe350=
XM_011520567.2:c.1050T>C	XP_011518869.1:p.Phe350=
XM_017018868.1:c.1050T>C	XP_016874357.1:p.Phe350=
XM_017018869.1:c.1050T>C	XP_016874358.1:p.Phe350=
XM_017018870.1:c.1050T>C	XP_016874359.1:p.Phe350=
XR_001748594.1:n.1148T>C
NM_144670.6:c.1050T>C MANE Select	NP_653271.3:p.Phe350=