Canonical Allele Identifier: CA478301391

Gene: A2ML1

Linked Data

• MyVariant Identifiers: chr12:g.8991797A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839201A>T , CM000674.2:g.8839201A>T	GRCh38
NC_000012.11:g.8991797A>T , CM000674.1:g.8991797A>T	GRCh37
NC_000012.10:g.8883064A>T	NCBI36
NG_042857.1:g.21730A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.1059A>T MANE Select	ENSP00000299698.7:p.Pro353=
ENST00000299698.11:c.1059A>T	ENSP00000299698.7:p.Pro353=
NM_144670.4:c.1059A>T	NP_653271.2:p.Pro353=
NM_144670.5:c.1059A>T	NP_653271.2:p.Pro353=
XM_011520566.1:c.1059A>T	XP_011518868.1:p.Pro353=
XM_011520567.1:c.1059A>T	XP_011518869.1:p.Pro353=
XR_931275.1:n.1157A>T
XM_011520566.2:c.1059A>T	XP_011518868.1:p.Pro353=
XM_011520567.2:c.1059A>T	XP_011518869.1:p.Pro353=
XM_017018868.1:c.1059A>T	XP_016874357.1:p.Pro353=
XM_017018869.1:c.1059A>T	XP_016874358.1:p.Pro353=
XM_017018870.1:c.1059A>T	XP_016874359.1:p.Pro353=
XR_001748594.1:n.1157A>T
NM_144670.6:c.1059A>T MANE Select	NP_653271.3:p.Pro353=