Canonical Allele Identifier: CA408061847

Gene: AVP

Linked Data

• MyVariant Identifiers: chr20:g.3063800T>G (hg19) ; chr20:g.3083154T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3083154T>G , CM000682.2:g.3083154T>G	GRCh38
NC_000020.10:g.3063800T>G , CM000682.1:g.3063800T>G	GRCh37
NC_000020.9:g.3011800T>G	NCBI36
NG_008663.1:g.6571A>C , LRG_715:g.6571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.145A>C MANE Select	ENSP00000369647.3:p.Lys49Gln
NM_000490.4:c.145A>C , LRG_715t1:c.145A>C	NP_000481.2:p.Lys49Gln
XM_011529267.1:c.145A>C	XP_011527569.1:p.Lys49Gln
XM_011529267.2:c.145A>C	XP_011527569.1:p.Lys49Gln
NM_000490.5:c.145A>C MANE Select	NP_000481.2:p.Lys49Gln