Canonical Allele Identifier: CA383817375

Gene: AICDA

Linked Data

• MyVariant Identifiers: chr12:g.8757405A>C (hg19) ; chr12:g.8604809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604809A>C , CM000674.2:g.8604809A>C	GRCh38
NC_000012.11:g.8757405A>C , CM000674.1:g.8757405A>C	GRCh37
NC_000012.10:g.8648672A>C	NCBI36
NG_011588.1:g.13038T>G , LRG_17:g.13038T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.511T>G	ENSP00000445691.1:p.Leu171Val
ENST00000543081.6:c.427+406T>G	ENSP00000439103.2:n.427+406T>G
ENST00000544516.6:c.157-472T>G	ENSP00000439538.2:n.157-472T>G
ENST00000545576.2:n.942T>G
ENST00000696246.1:c.496T>G	ENSP00000512504.1:p.Leu166Val
ENST00000696271.1:n.953T>G
ENST00000696272.1:c.526T>G	ENSP00000512515.1:p.Leu176Val
ENST00000696273.1:c.574T>G	ENSP00000512516.1:p.Leu192Val
ENST00000229335.11:c.541T>G MANE Select	ENSP00000229335.6:p.Leu181Val
ENST00000229335.10:c.541T>G	ENSP00000229335.6:p.Leu181Val
ENST00000537228.5:c.511T>G	ENSP00000445691.1:p.Leu171Val
ENST00000543081.5:c.423+406T>G
ENST00000544516.5:c.153-472T>G
ENST00000545512.1:c.537T>G
ENST00000545576.1:n.867T>G
NM_020661.2:c.541T>G , LRG_17t1:c.541T>G	NP_065712.1:p.Leu181Val
XM_011520772.1:c.511T>G	XP_011519074.1:p.Leu171Val
XM_011520773.1:c.427+406T>G	XP_011519075.1:n.427+406T>G
NM_001330343.1:c.511T>G	NP_001317272.1:p.Leu171Val
NM_020661.3:c.541T>G	NP_065712.1:p.Leu181Val
XM_011520773.2:c.427+406T>G	XP_011519075.1:n.427+406T>G
NM_020661.4:c.541T>G MANE Select	NP_065712.1:p.Leu181Val
NM_001330343.2:c.511T>G	NP_001317272.1:p.Leu171Val