Canonical Allele Identifier: CA408061866

Gene: AVP

Linked Data

• gnomAD v4: 20-3083166-C-A
• MyVariant Identifiers: chr20:g.3063812C>A (hg19) ; chr20:g.3083166C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3083166C>A , CM000682.2:g.3083166C>A	GRCh38
NC_000020.10:g.3063812C>A , CM000682.1:g.3063812C>A	GRCh37
NC_000020.9:g.3011812C>A	NCBI36
NG_008663.1:g.6559G>T , LRG_715:g.6559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.133G>T MANE Select	ENSP00000369647.3:p.Gly45Cys
NM_000490.4:c.133G>T , LRG_715t1:c.133G>T	NP_000481.2:p.Gly45Cys
XM_011529267.1:c.133G>T	XP_011527569.1:p.Gly45Cys
XM_011529267.2:c.133G>T	XP_011527569.1:p.Gly45Cys
NM_000490.5:c.133G>T MANE Select	NP_000481.2:p.Gly45Cys