Canonical Allele Identifier: CA2035375793
Community Standard Title: NM_001651.4(AQP5):c.134T= (p.Ile45=)
Gene: AQP5 HGNC NCBI
AQP5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49962151T= , CM000674.2:g.49962151T= GRCh38
NC_000012.11:g.50355934T= , CM000674.1:g.50355934T= GRCh37
NC_000012.10:g.48642201T= NCBI36
NG_033883.1:g.5656T=

Transcript Alleles

HGVS Amino-acid Change
NM_001651.4:c.134T= (AQP5) MANE Select NP_001642.1:p.Ile45=
ENST00000293599.7:c.134T= (AQP5) MANE Select ENSP00000293599.5:p.Ile45=
NM_001651.3:c.134T= (AQP5) NP_001642.1:p.Ile45=
NR_110589.1:n.258+516A= (AQP5-AS1)
NR_110590.1:n.256+516A= (AQP5-AS1)
NR_110591.1:n.117+516A= (AQP5-AS1)
ENST00000293599.6:c.134T= (AQP5) ENSP00000293599.5:p.Ile45=
XM_005268838.2:c.134T= (AQP5) XP_005268895.1:p.Ile45=