Canonical Allele Identifier: CA383823848

Gene: A2ML1

Linked Data

• gnomAD v4: 12-8839216-T-G
• MyVariant Identifiers: chr12:g.8991812T>G (hg19) ; chr12:g.8839216T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839216T>G , CM000674.2:g.8839216T>G	GRCh38
NC_000012.11:g.8991812T>G , CM000674.1:g.8991812T>G	GRCh37
NC_000012.10:g.8883079T>G	NCBI36
NG_042857.1:g.21745T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.1074T>G MANE Select	ENSP00000299698.7:p.Ser358Arg
ENST00000299698.11:c.1074T>G	ENSP00000299698.7:p.Ser358Arg
NM_144670.4:c.1074T>G	NP_653271.2:p.Ser358Arg
NM_144670.5:c.1074T>G	NP_653271.2:p.Ser358Arg
XM_011520566.1:c.1074T>G	XP_011518868.1:p.Ser358Arg
XM_011520567.1:c.1074T>G	XP_011518869.1:p.Ser358Arg
XR_931275.1:n.1172T>G
XM_011520566.2:c.1074T>G	XP_011518868.1:p.Ser358Arg
XM_011520567.2:c.1074T>G	XP_011518869.1:p.Ser358Arg
XM_017018868.1:c.1074T>G	XP_016874357.1:p.Ser358Arg
XM_017018869.1:c.1074T>G	XP_016874358.1:p.Ser358Arg
XM_017018870.1:c.1074T>G	XP_016874359.1:p.Ser358Arg
XR_001748594.1:n.1172T>G
NM_144670.6:c.1074T>G MANE Select	NP_653271.3:p.Ser358Arg