Canonical Allele Identifier: CA401161208

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469738-G-C
• MyVariant Identifiers: chr17:g.74465820G>C (hg19) ; chr17:g.76469738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469738G>C , CM000679.2:g.76469738G>C	GRCh38
NC_000017.10:g.74465820G>C , CM000679.1:g.74465820G>C	GRCh37
NC_000017.9:g.71977415G>C	NCBI36
NG_015976.1:g.21388G>C
NG_032852.1:g.36690C>G , LRG_532:g.36690C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392492.8:c.392G>C MANE Select	ENSP00000376282.2:p.Arg131Pro
ENST00000250615.7:c.527G>C	ENSP00000250615.2:p.Arg176Pro
ENST00000392492.7:c.392G>C	ENSP00000376282.2:p.Arg131Pro
ENST00000587798.1:c.*169G>C	ENSP00000468239.1:n.*169G>C
NM_001088.2:c.392G>C	NP_001079.1:p.Arg131Pro
NM_001166579.1:c.527G>C	NP_001160051.1:p.Arg176Pro
NR_110548.1:n.703G>C
XM_011524415.1:c.392G>C	XP_011522717.1:p.Arg131Pro
XM_011524416.1:c.599G>C	XP_011522718.1:p.Arg200Pro
XM_011524417.1:c.599G>C	XP_011522719.1:p.Arg200Pro
XM_011524418.1:c.599G>C	XP_011522720.1:p.Arg200Pro
XM_011524419.1:c.599G>C	XP_011522721.1:p.Arg200Pro
XM_011524420.1:c.599G>C	XP_011522722.1:p.Arg200Pro
XM_011524421.1:c.599G>C	XP_011522723.1:p.Arg200Pro
XM_011524422.1:c.482G>C	XP_011522724.1:p.Arg161Pro
XM_011524423.1:c.392G>C	XP_011522725.1:p.Arg131Pro
XM_017024259.1:c.506G>C	XP_016879748.1:p.Arg169Pro
NM_001088.3:c.392G>C MANE Select	NP_001079.1:p.Arg131Pro
NR_110548.2:n.648G>C
NM_001166579.2:c.527G>C	NP_001160051.1:p.Arg176Pro