Canonical Allele Identifier: CA401161285

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469776-C-A
• MyVariant Identifiers: chr17:g.74465858C>A (hg19) ; chr17:g.76469776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469776C>A , CM000679.2:g.76469776C>A	GRCh38
NC_000017.10:g.74465858C>A , CM000679.1:g.74465858C>A	GRCh37
NC_000017.9:g.71977453C>A	NCBI36
NG_015976.1:g.21426C>A
NG_032852.1:g.36652G>T , LRG_532:g.36652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.430C>A MANE Select	ENSP00000376282.2:p.Leu144Met
ENST00000250615.7:c.565C>A	ENSP00000250615.2:p.Leu189Met
ENST00000392492.7:c.430C>A	ENSP00000376282.2:p.Leu144Met
ENST00000587798.1:c.*207C>A	ENSP00000468239.1:n.*207C>A
NM_001088.2:c.430C>A	NP_001079.1:p.Leu144Met
NM_001166579.1:c.565C>A	NP_001160051.1:p.Leu189Met
NR_110548.1:n.741C>A
XM_011524415.1:c.430C>A	XP_011522717.1:p.Leu144Met
XM_011524416.1:c.637C>A	XP_011522718.1:p.Leu213Met
XM_011524417.1:c.637C>A	XP_011522719.1:p.Leu213Met
XM_011524418.1:c.637C>A	XP_011522720.1:p.Leu213Met
XM_011524419.1:c.637C>A	XP_011522721.1:p.Leu213Met
XM_011524420.1:c.637C>A	XP_011522722.1:p.Leu213Met
XM_011524421.1:c.637C>A	XP_011522723.1:p.Leu213Met
XM_011524422.1:c.520C>A	XP_011522724.1:p.Leu174Met
XM_011524423.1:c.430C>A	XP_011522725.1:p.Leu144Met
XM_017024259.1:c.544C>A	XP_016879748.1:p.Leu182Met
NM_001088.3:c.430C>A MANE Select	NP_001079.1:p.Leu144Met
NR_110548.2:n.686C>A
NM_001166579.2:c.565C>A	NP_001160051.1:p.Leu189Met