Canonical Allele Identifier: CA7584605

Gene: AQP9 ALDH1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58184118C>T , CM000677.2:g.58184118C>T	GRCh38
NC_000015.9:g.58476317C>T , CM000677.1:g.58476317C>T	GRCh37
NC_000015.8:g.56263609C>T	NCBI36
NG_011975.1:g.50910C>T
NG_011975.2:g.50910C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020980.5:c.871C>T (AQP9) MANE Select	NP_066190.2:p.Leu291Phe
ENST00000219919.9:c.871C>T (AQP9) MANE Select	ENSP00000219919.4:p.Leu291Phe
NM_001320635.1:c.*71C>T (AQP9)	NP_001307564.1:n.*71C>T
NM_001320635.2:c.*71C>T (AQP9)	NP_001307564.1:n.*71C>T
NM_001320636.1:c.676C>T (AQP9)	NP_001307565.1:p.Leu226Phe
NM_020980.3:c.871C>T (AQP9)	NP_066190.2:p.Leu291Phe
NM_020980.4:c.871C>T (AQP9)	NP_066190.2:p.Leu291Phe
ENST00000219919.8:c.871C>T (AQP9)	ENSP00000219919.4:p.Leu291Phe
ENST00000536493.1:c.871C>T (AQP9)	ENSP00000441390.1:p.Leu291Phe
ENST00000558073.5:n.265+62017G>A (ALDH1A2)
ENST00000558231.5:c.30+95056G>A (ALDH1A2)	ENSP00000453600.1:n.30+95056G>A
ENST00000558239.5:c.-171-169837G>A (ALDH1A2)	ENSP00000453292.1:n.-171-169837G>A
ENST00000558504.1:n.55-17322G>A (ALDH1A2)
ENST00000558772.5:c.676C>T (AQP9)	ENSP00000452673.1:p.Leu226Phe
ENST00000559297.5:n.149-45546G>A (ALDH1A2)
ENST00000560122.5:n.265+41496G>A (ALDH1A2)
ENST00000560863.5:n.416-45546G>A (ALDH1A2)
XR_001751559.2:n.6725+62017G>A