Canonical Allele Identifier: CA144807
Gene: AQP5 HGNC NCBI
AQP5-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65478
ClinVar RCV Id: RCV003556140
dbSNP Id: rs398123054
ExAC: 12:50355913 C / A
gnomAD v2: 12-50355913-C-A
gnomAD v3: 12-49962130-C-A
gnomAD v4: 12-49962130-C-A
MyVariant Identifiers: chr12:g.50355913C>A (hg19) chr12:g.49962130C>A (hg38)
PubMed: PMID:7531539 PMID:23830519
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49962130C>A , CM000674.2:g.49962130C>A GRCh38
NC_000012.11:g.50355913C>A , CM000674.1:g.50355913C>A GRCh37
NC_000012.10:g.48642180C>A NCBI36
NG_033883.1:g.5635C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000293599.7:c.113C>A (AQP5) MANE Select ENSP00000293599.5:p.Ala38Glu
ENST00000293599.6:c.113C>A (AQP5) ENSP00000293599.5:p.Ala38Glu
NM_001651.3:c.113C>A (AQP5) NP_001642.1:p.Ala38Glu
NR_110589.1:n.258+537G>T (AQP5-AS1)
NR_110590.1:n.256+537G>T (AQP5-AS1)
NR_110591.1:n.117+537G>T (AQP5-AS1)
XM_005268838.2:c.113C>A (AQP5) XP_005268895.1:p.Ala38Glu
NM_001651.4:c.113C>A (AQP5) MANE Select NP_001642.1:p.Ala38Glu
Search 100 bp 5'
Search 100 bp 3'