Canonical Allele Identifier: CA383823883

Gene: A2ML1

Linked Data

• MyVariant Identifiers: chr12:g.8991820T>C (hg19) ; chr12:g.8839224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8839224T>C , CM000674.2:g.8839224T>C	GRCh38
NC_000012.11:g.8991820T>C , CM000674.1:g.8991820T>C	GRCh37
NC_000012.10:g.8883087T>C	NCBI36
NG_042857.1:g.21753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299698.12:c.1080+2T>C MANE Select	ENSP00000299698.7:n.1080+2T>C
ENST00000299698.11:c.1080+2T>C	ENSP00000299698.7:n.1080+2T>C
NM_144670.4:c.1080+2T>C	NP_653271.2:n.1080+2T>C
NM_144670.5:c.1080+2T>C	NP_653271.2:n.1080+2T>C
XM_011520566.1:c.1080+2T>C	XP_011518868.1:n.1080+2T>C
XM_011520567.1:c.1080+2T>C	XP_011518869.1:n.1080+2T>C
XR_931275.1:n.1178+2T>C
XM_011520566.2:c.1080+2T>C	XP_011518868.1:n.1080+2T>C
XM_011520567.2:c.1080+2T>C	XP_011518869.1:n.1080+2T>C
XM_017018868.1:c.1080+2T>C	XP_016874357.1:n.1080+2T>C
XM_017018869.1:c.1080+2T>C	XP_016874358.1:n.1080+2T>C
XM_017018870.1:c.1080+2T>C	XP_016874359.1:n.1080+2T>C
XR_001748594.1:n.1178+2T>C
NM_144670.6:c.1080+2T>C MANE Select	NP_653271.3:n.1080+2T>C