Canonical Allele Identifier: CA401161030

Gene: AANAT

Linked Data

• dbSNP Id: rs2073485041
• gnomAD v3: 17-76469319-C-T
• gnomAD v4: 17-76469319-C-T
• MyVariant Identifiers: chr17:g.74465401C>T (hg19) ; chr17:g.76469319C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469319C>T , CM000679.2:g.76469319C>T	GRCh38
NC_000017.10:g.74465401C>T , CM000679.1:g.74465401C>T	GRCh37
NC_000017.9:g.71976996C>T	NCBI36
NG_015976.1:g.20969C>T
NG_032852.1:g.37109G>A , LRG_532:g.37109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.310C>T MANE Select	ENSP00000376282.2:p.Leu104Phe
ENST00000250615.7:c.445C>T	ENSP00000250615.2:p.Leu149Phe
ENST00000392492.7:c.310C>T	ENSP00000376282.2:p.Leu104Phe
ENST00000585649.1:c.424C>T	ENSP00000468717.1:p.Leu142Phe
ENST00000587798.1:c.*87C>T	ENSP00000468239.1:n.*87C>T
NM_001088.2:c.310C>T	NP_001079.1:p.Leu104Phe
NM_001166579.1:c.445C>T	NP_001160051.1:p.Leu149Phe
NR_110548.1:n.621C>T
XM_011524415.1:c.310C>T	XP_011522717.1:p.Leu104Phe
XM_011524416.1:c.517C>T	XP_011522718.1:p.Leu173Phe
XM_011524417.1:c.517C>T	XP_011522719.1:p.Leu173Phe
XM_011524418.1:c.517C>T	XP_011522720.1:p.Leu173Phe
XM_011524419.1:c.517C>T	XP_011522721.1:p.Leu173Phe
XM_011524420.1:c.517C>T	XP_011522722.1:p.Leu173Phe
XM_011524421.1:c.517C>T	XP_011522723.1:p.Leu173Phe
XM_011524422.1:c.400C>T	XP_011522724.1:p.Leu134Phe
XM_011524423.1:c.310C>T	XP_011522725.1:p.Leu104Phe
XM_017024259.1:c.424C>T	XP_016879748.1:p.Leu142Phe
NM_001088.3:c.310C>T MANE Select	NP_001079.1:p.Leu104Phe
NR_110548.2:n.566C>T
NM_001166579.2:c.445C>T	NP_001160051.1:p.Leu149Phe