Canonical Allele Identifier: CA690781874
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1364506458
MyVariant Identifiers: chr12:g.63540697G>A (hg19) chr12:g.63146917G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146917G>A , CM000674.2:g.63146917G>A GRCh38
NC_000012.11:g.63540697G>A , CM000674.1:g.63540697G>A GRCh37
NC_000012.10:g.61826964G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*442C>T MANE Select ENSP00000299178.3:n.*442C>T
ENST00000299178.3:c.*442C>T ENSP00000299178.2:n.*442C>T
ENST00000550940.1:c.538+504C>T ENSP00000449822.1:n.538+504C>T
NM_000706.4:c.*442C>T NP_000697.1:n.*442C>T
XM_005269002.3:c.*442C>T XP_005269059.1:n.*442C>T
NM_000706.5:c.*442C>T MANE Select NP_000697.1:n.*442C>T
Search 100 bp 5'
Search 100 bp 3'