Canonical Allele Identifier: CA294178169

Gene: AANAT

Linked Data

• ClinVar Variation Id: 2400665
• ClinVar RCV Id: RCV002768861
• dbSNP Id: rs970708682
• gnomAD v2: 17-74465819-C-T
• gnomAD v3: 17-76469737-C-T
• gnomAD v4: 17-76469737-C-T
• COSMIC: COSM5564749 ; COSM5564750
• MyVariant Identifiers: chr17:g.74465819C>T (hg19) ; chr17:g.76469737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469737C>T , CM000679.2:g.76469737C>T	GRCh38
NC_000017.10:g.74465819C>T , CM000679.1:g.74465819C>T	GRCh37
NC_000017.9:g.71977414C>T	NCBI36
NG_015976.1:g.21387C>T
NG_032852.1:g.36691G>A , LRG_532:g.36691G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392492.8:c.391C>T MANE Select	ENSP00000376282.2:p.Arg131Trp
ENST00000250615.7:c.526C>T	ENSP00000250615.2:p.Arg176Trp
ENST00000392492.7:c.391C>T	ENSP00000376282.2:p.Arg131Trp
ENST00000587798.1:c.*168C>T	ENSP00000468239.1:n.*168C>T
NM_001088.2:c.391C>T	NP_001079.1:p.Arg131Trp
NM_001166579.1:c.526C>T	NP_001160051.1:p.Arg176Trp
NR_110548.1:n.702C>T
XM_011524415.1:c.391C>T	XP_011522717.1:p.Arg131Trp
XM_011524416.1:c.598C>T	XP_011522718.1:p.Arg200Trp
XM_011524417.1:c.598C>T	XP_011522719.1:p.Arg200Trp
XM_011524418.1:c.598C>T	XP_011522720.1:p.Arg200Trp
XM_011524419.1:c.598C>T	XP_011522721.1:p.Arg200Trp
XM_011524420.1:c.598C>T	XP_011522722.1:p.Arg200Trp
XM_011524421.1:c.598C>T	XP_011522723.1:p.Arg200Trp
XM_011524422.1:c.481C>T	XP_011522724.1:p.Arg161Trp
XM_011524423.1:c.391C>T	XP_011522725.1:p.Arg131Trp
XM_017024259.1:c.505C>T	XP_016879748.1:p.Arg169Trp
NM_001088.3:c.391C>T MANE Select	NP_001079.1:p.Arg131Trp
NR_110548.2:n.647C>T
NM_001166579.2:c.526C>T	NP_001160051.1:p.Arg176Trp