Canonical Allele Identifier: CA383823525

Gene: A2ML1

Linked Data

• MyVariant Identifiers: chr12:g.8991708G>T (hg19) ; chr12:g.8839112G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839112G>T , CM000674.2:g.8839112G>T	GRCh38
NC_000012.11:g.8991708G>T , CM000674.1:g.8991708G>T	GRCh37
NC_000012.10:g.8882975G>T	NCBI36
NG_042857.1:g.21641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.971-1G>T MANE Select	ENSP00000299698.7:n.971-1G>T
ENST00000299698.11:c.971-1G>T	ENSP00000299698.7:n.971-1G>T
NM_144670.4:c.971-1G>T	NP_653271.2:n.971-1G>T
NM_144670.5:c.971-1G>T	NP_653271.2:n.971-1G>T
XM_011520566.1:c.971-1G>T	XP_011518868.1:n.971-1G>T
XM_011520567.1:c.971-1G>T	XP_011518869.1:n.971-1G>T
XR_931275.1:n.1069-1G>T
XM_011520566.2:c.971-1G>T	XP_011518868.1:n.971-1G>T
XM_011520567.2:c.971-1G>T	XP_011518869.1:n.971-1G>T
XM_017018868.1:c.971-1G>T	XP_016874357.1:n.971-1G>T
XM_017018869.1:c.971-1G>T	XP_016874358.1:n.971-1G>T
XM_017018870.1:c.971-1G>T	XP_016874359.1:n.971-1G>T
XR_001748594.1:n.1069-1G>T
NM_144670.6:c.971-1G>T MANE Select	NP_653271.3:n.971-1G>T