Canonical Allele Identifier: CA502066701

Gene: AANAT

Linked Data

• dbSNP Id: rs2143986211
• gnomAD v4: 17-76469778-G-A
• MyVariant Identifiers: chr17:g.74465860G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469778G>A , CM000679.2:g.76469778G>A	GRCh38
NC_000017.10:g.74465860G>A , CM000679.1:g.74465860G>A	GRCh37
NC_000017.9:g.71977455G>A	NCBI36
NG_015976.1:g.21428G>A
NG_032852.1:g.36650C>T , LRG_532:g.36650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.432G>A MANE Select	ENSP00000376282.2:p.Leu144=
ENST00000250615.7:c.567G>A	ENSP00000250615.2:p.Leu189=
ENST00000392492.7:c.432G>A	ENSP00000376282.2:p.Leu144=
ENST00000587798.1:c.*209G>A	ENSP00000468239.1:n.*209G>A
NM_001088.2:c.432G>A	NP_001079.1:p.Leu144=
NM_001166579.1:c.567G>A	NP_001160051.1:p.Leu189=
NR_110548.1:n.743G>A
XM_011524415.1:c.432G>A	XP_011522717.1:p.Leu144=
XM_011524416.1:c.639G>A	XP_011522718.1:p.Leu213=
XM_011524417.1:c.639G>A	XP_011522719.1:p.Leu213=
XM_011524418.1:c.639G>A	XP_011522720.1:p.Leu213=
XM_011524419.1:c.639G>A	XP_011522721.1:p.Leu213=
XM_011524420.1:c.639G>A	XP_011522722.1:p.Leu213=
XM_011524421.1:c.639G>A	XP_011522723.1:p.Leu213=
XM_011524422.1:c.522G>A	XP_011522724.1:p.Leu174=
XM_011524423.1:c.432G>A	XP_011522725.1:p.Leu144=
XM_017024259.1:c.546G>A	XP_016879748.1:p.Leu182=
NM_001088.3:c.432G>A MANE Select	NP_001079.1:p.Leu144=
NR_110548.2:n.688G>A
NM_001166579.2:c.567G>A	NP_001160051.1:p.Leu189=