Canonical Allele Identifier: CA509404050
Gene: AVP HGNC NCBI

Linked Data

gnomAD v4: 20-3082698-G-A
MyVariant Identifiers: chr20:g.3063344G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082698G>A , CM000682.2:g.3082698G>A GRCh38
NC_000020.10:g.3063344G>A , CM000682.1:g.3063344G>A GRCh37
NC_000020.9:g.3011344G>A NCBI36
NG_008663.1:g.7027C>T , LRG_715:g.7027C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.427C>T MANE Select ENSP00000369647.3:p.Leu143=
NM_000490.4:c.427C>T , LRG_715t1:c.427C>T NP_000481.2:p.Leu143=
XM_011529267.1:c.427C>T XP_011527569.1:p.Leu143=
XM_011529267.2:c.427C>T XP_011527569.1:p.Leu143=
NM_000490.5:c.427C>T MANE Select NP_000481.2:p.Leu143=
Search 100 bp 5'
Search 100 bp 3'