Canonical Allele Identifier: CA10633618

Gene: AICDA

Linked Data

• ClinVar Variation Id: 310573
• ClinVar RCV Id: RCV000265817
• dbSNP Id: rs886049875
• gnomAD v4: 12-8603996-G-A
• MyVariant Identifiers: chr12:g.8756592G>A (hg19) ; chr12:g.8603996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8603996G>A , CM000674.2:g.8603996G>A	GRCh38
NC_000012.11:g.8756592G>A , CM000674.1:g.8756592G>A	GRCh37
NC_000012.10:g.8647859G>A	NCBI36
NG_011588.1:g.13851C>T , LRG_17:g.13851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.*288C>T	ENSP00000445691.1:n.*288C>T
ENST00000543081.6:c.*331C>T	ENSP00000439103.2:n.*331C>T
ENST00000545576.2:n.1286C>T
ENST00000696246.1:c.*288C>T	ENSP00000512504.1:n.*288C>T
ENST00000696271.1:n.1297C>T
ENST00000696272.1:c.*288C>T	ENSP00000512515.1:n.*288C>T
ENST00000696273.1:c.*288C>T	ENSP00000512516.1:n.*288C>T
ENST00000229335.11:c.*288C>T MANE Select	ENSP00000229335.6:n.*288C>T
ENST00000229335.10:c.*288C>T	ENSP00000229335.6:n.*288C>T
ENST00000543081.5:c.765C>T
NM_020661.2:c.*288C>T , LRG_17t1:c.*288C>T	NP_065712.1:n.*288C>T
XM_011520772.1:c.*288C>T	XP_011519074.1:n.*288C>T
NM_001330343.1:c.*288C>T	NP_001317272.1:n.*288C>T
NM_020661.3:c.*288C>T	NP_065712.1:n.*288C>T
NM_020661.4:c.*288C>T MANE Select	NP_065712.1:n.*288C>T
NM_001330343.2:c.*288C>T	NP_001317272.1:n.*288C>T