Canonical Allele Identifier: CA401161201

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469734-T-C
• MyVariant Identifiers: chr17:g.74465816T>C (hg19) ; chr17:g.76469734T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469734T>C , CM000679.2:g.76469734T>C	GRCh38
NC_000017.10:g.74465816T>C , CM000679.1:g.74465816T>C	GRCh37
NC_000017.9:g.71977411T>C	NCBI36
NG_015976.1:g.21384T>C
NG_032852.1:g.36694A>G , LRG_532:g.36694A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392492.8:c.388T>C MANE Select	ENSP00000376282.2:p.Phe130Leu
ENST00000250615.7:c.523T>C	ENSP00000250615.2:p.Phe175Leu
ENST00000392492.7:c.388T>C	ENSP00000376282.2:p.Phe130Leu
ENST00000587798.1:c.*165T>C	ENSP00000468239.1:n.*165T>C
NM_001088.2:c.388T>C	NP_001079.1:p.Phe130Leu
NM_001166579.1:c.523T>C	NP_001160051.1:p.Phe175Leu
NR_110548.1:n.699T>C
XM_011524415.1:c.388T>C	XP_011522717.1:p.Phe130Leu
XM_011524416.1:c.595T>C	XP_011522718.1:p.Phe199Leu
XM_011524417.1:c.595T>C	XP_011522719.1:p.Phe199Leu
XM_011524418.1:c.595T>C	XP_011522720.1:p.Phe199Leu
XM_011524419.1:c.595T>C	XP_011522721.1:p.Phe199Leu
XM_011524420.1:c.595T>C	XP_011522722.1:p.Phe199Leu
XM_011524421.1:c.595T>C	XP_011522723.1:p.Phe199Leu
XM_011524422.1:c.478T>C	XP_011522724.1:p.Phe160Leu
XM_011524423.1:c.388T>C	XP_011522725.1:p.Phe130Leu
XM_017024259.1:c.502T>C	XP_016879748.1:p.Phe168Leu
NM_001088.3:c.388T>C MANE Select	NP_001079.1:p.Phe130Leu
NR_110548.2:n.644T>C
NM_001166579.2:c.523T>C	NP_001160051.1:p.Phe175Leu