Canonical Allele Identifier: CA383818294
Community Standard Title: NM_020661.4(AICDA):c.415A>C (p.Met139Leu)
Gene: AICDA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8605227T>G , CM000674.2:g.8605227T>G GRCh38
NC_000012.11:g.8757823T>G , CM000674.1:g.8757823T>G GRCh37
NC_000012.10:g.8649090T>G NCBI36
NG_011588.1:g.12620A>C , LRG_17:g.12620A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020661.4:c.415A>C MANE Select NP_065712.1:p.Met139Leu
ENST00000229335.11:c.415A>C MANE Select ENSP00000229335.6:p.Met139Leu
NM_001330343.1:c.415A>C NP_001317272.1:p.Met139Leu
NM_001330343.2:c.415A>C NP_001317272.1:p.Met139Leu
NM_020661.2:c.415A>C , LRG_17t1:c.415A>C NP_065712.1:p.Met139Leu
NM_020661.3:c.415A>C NP_065712.1:p.Met139Leu
ENST00000229335.10:c.415A>C ENSP00000229335.6:p.Met139Leu
ENST00000537228.5:c.415A>C ENSP00000445691.1:p.Met139Leu
ENST00000537228.6:c.415A>C ENSP00000445691.1:p.Met139Leu
ENST00000543081.5:c.411A>C
ENST00000543081.6:c.415A>C ENSP00000439103.2:p.Met139Leu
ENST00000544516.5:c.153-890A>C
ENST00000544516.6:c.157-890A>C ENSP00000439538.2:n.157-890A>C
ENST00000545512.1:c.411A>C
ENST00000545576.1:n.449A>C
ENST00000545576.2:n.524A>C
ENST00000696246.1:c.400A>C ENSP00000512504.1:p.Met134Leu
ENST00000696271.1:n.535A>C
ENST00000696272.1:c.400A>C ENSP00000512515.1:p.Met134Leu
ENST00000696273.1:c.448A>C ENSP00000512516.1:p.Met150Leu
XM_011520772.1:c.415A>C XP_011519074.1:p.Met139Leu
XM_011520773.1:c.415A>C XP_011519075.1:p.Met139Leu
XM_011520773.2:c.415A>C XP_011519075.1:p.Met139Leu