Canonical Allele Identifier: CA502066625

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469724-G-T
• MyVariant Identifiers: chr17:g.74465806G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469724G>T , CM000679.2:g.76469724G>T	GRCh38
NC_000017.10:g.74465806G>T , CM000679.1:g.74465806G>T	GRCh37
NC_000017.9:g.71977401G>T	NCBI36
NG_015976.1:g.21374G>T
NG_032852.1:g.36704C>A , LRG_532:g.36704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.378G>T MANE Select	ENSP00000376282.2:p.Val126=
ENST00000250615.7:c.513G>T	ENSP00000250615.2:p.Val171=
ENST00000392492.7:c.378G>T	ENSP00000376282.2:p.Val126=
ENST00000587798.1:c.*155G>T	ENSP00000468239.1:n.*155G>T
NM_001088.2:c.378G>T	NP_001079.1:p.Val126=
NM_001166579.1:c.513G>T	NP_001160051.1:p.Val171=
NR_110548.1:n.689G>T
XM_011524415.1:c.378G>T	XP_011522717.1:p.Val126=
XM_011524416.1:c.585G>T	XP_011522718.1:p.Val195=
XM_011524417.1:c.585G>T	XP_011522719.1:p.Val195=
XM_011524418.1:c.585G>T	XP_011522720.1:p.Val195=
XM_011524419.1:c.585G>T	XP_011522721.1:p.Val195=
XM_011524420.1:c.585G>T	XP_011522722.1:p.Val195=
XM_011524421.1:c.585G>T	XP_011522723.1:p.Val195=
XM_011524422.1:c.468G>T	XP_011522724.1:p.Val156=
XM_011524423.1:c.378G>T	XP_011522725.1:p.Val126=
XM_017024259.1:c.492G>T	XP_016879748.1:p.Val164=
NM_001088.3:c.378G>T MANE Select	NP_001079.1:p.Val126=
NR_110548.2:n.634G>T
NM_001166579.2:c.513G>T	NP_001160051.1:p.Val171=