Canonical Allele Identifier: CA2041545471
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1868365526
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146886G>T , CM000674.2:g.63146886G>T GRCh38
NC_000012.11:g.63540666G>T , CM000674.1:g.63540666G>T GRCh37
NC_000012.10:g.61826933G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*473C>A MANE Select ENSP00000299178.3:n.*473C>A
ENST00000299178.3:c.*473C>A ENSP00000299178.2:n.*473C>A
ENST00000550940.1:c.538+535C>A ENSP00000449822.1:n.538+535C>A
NM_000706.4:c.*473C>A NP_000697.1:n.*473C>A
XM_005269002.3:c.*473C>A XP_005269059.1:n.*473C>A
NM_000706.5:c.*473C>A MANE Select NP_000697.1:n.*473C>A
Search 100 bp 5'
Search 100 bp 3'