Canonical Allele Identifier: CA383819116

Gene: AICDA

Linked Data

• ClinVar Variation Id: 1497983
• ClinVar RCV Id: RCV001996347
• dbSNP Id: rs2136431944
• MyVariant Identifiers: chr12:g.8757981G>A (hg19) ; chr12:g.8605385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605385G>A , CM000674.2:g.8605385G>A	GRCh38
NC_000012.11:g.8757981G>A , CM000674.1:g.8757981G>A	GRCh37
NC_000012.10:g.8649248G>A	NCBI36
NG_011588.1:g.12462C>T , LRG_17:g.12462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.257C>T	ENSP00000445691.1:p.Pro86Leu
ENST00000543081.6:c.257C>T	ENSP00000439103.2:p.Pro86Leu
ENST00000544516.6:c.157-1048C>T	ENSP00000439538.2:n.157-1048C>T
ENST00000545576.2:n.366C>T
ENST00000696246.1:c.242C>T	ENSP00000512504.1:p.Pro81Leu
ENST00000696271.1:n.377C>T
ENST00000696272.1:c.242C>T	ENSP00000512515.1:p.Pro81Leu
ENST00000696273.1:c.290C>T	ENSP00000512516.1:p.Pro97Leu
ENST00000229335.11:c.257C>T MANE Select	ENSP00000229335.6:p.Pro86Leu
ENST00000229335.10:c.257C>T	ENSP00000229335.6:p.Pro86Leu
ENST00000537228.5:c.257C>T	ENSP00000445691.1:p.Pro86Leu
ENST00000543081.5:c.253C>T
ENST00000544516.5:c.153-1048C>T
ENST00000545512.1:c.253C>T
ENST00000545576.1:n.291C>T
NM_020661.2:c.257C>T , LRG_17t1:c.257C>T	NP_065712.1:p.Pro86Leu
XM_011520772.1:c.257C>T	XP_011519074.1:p.Pro86Leu
XM_011520773.1:c.257C>T	XP_011519075.1:p.Pro86Leu
NM_001330343.1:c.257C>T	NP_001317272.1:p.Pro86Leu
NM_020661.3:c.257C>T	NP_065712.1:p.Pro86Leu
XM_011520773.2:c.257C>T	XP_011519075.1:p.Pro86Leu
NM_020661.4:c.257C>T MANE Select	NP_065712.1:p.Pro86Leu
NM_001330343.2:c.257C>T	NP_001317272.1:p.Pro86Leu