Canonical Allele Identifier: CA383823578

Gene: A2ML1

Linked Data

• MyVariant Identifiers: chr12:g.8991734T>A (hg19) ; chr12:g.8839138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839138T>A , CM000674.2:g.8839138T>A	GRCh38
NC_000012.11:g.8991734T>A , CM000674.1:g.8991734T>A	GRCh37
NC_000012.10:g.8883001T>A	NCBI36
NG_042857.1:g.21667T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.996T>A MANE Select	ENSP00000299698.7:p.Asn332Lys
ENST00000299698.11:c.996T>A	ENSP00000299698.7:p.Asn332Lys
NM_144670.4:c.996T>A	NP_653271.2:p.Asn332Lys
NM_144670.5:c.996T>A	NP_653271.2:p.Asn332Lys
XM_011520566.1:c.996T>A	XP_011518868.1:p.Asn332Lys
XM_011520567.1:c.996T>A	XP_011518869.1:p.Asn332Lys
XR_931275.1:n.1094T>A
XM_011520566.2:c.996T>A	XP_011518868.1:p.Asn332Lys
XM_011520567.2:c.996T>A	XP_011518869.1:p.Asn332Lys
XM_017018868.1:c.996T>A	XP_016874357.1:p.Asn332Lys
XM_017018869.1:c.996T>A	XP_016874358.1:p.Asn332Lys
XM_017018870.1:c.996T>A	XP_016874359.1:p.Asn332Lys
XR_001748594.1:n.1094T>A
NM_144670.6:c.996T>A MANE Select	NP_653271.3:p.Asn332Lys