Canonical Allele Identifier: CA408061691

Gene: AVP

Linked Data

• gnomAD v4: 20-3083084-G-A
• MyVariant Identifiers: chr20:g.3063730G>A (hg19) ; chr20:g.3083084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3083084G>A , CM000682.2:g.3083084G>A	GRCh38
NC_000020.10:g.3063730G>A , CM000682.1:g.3063730G>A	GRCh37
NC_000020.9:g.3011730G>A	NCBI36
NG_008663.1:g.6641C>T , LRG_715:g.6641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.215C>T MANE Select	ENSP00000369647.3:p.Ala72Val
NM_000490.4:c.215C>T , LRG_715t1:c.215C>T	NP_000481.2:p.Ala72Val
XM_011529267.1:c.215C>T	XP_011527569.1:p.Ala72Val
XM_011529267.2:c.215C>T	XP_011527569.1:p.Ala72Val
NM_000490.5:c.215C>T MANE Select	NP_000481.2:p.Ala72Val