Canonical Allele Identifier: CA2041545347
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1565877926

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146787A>G , CM000674.2:g.63146787A>G GRCh38
NC_000012.11:g.63540567A>G , CM000674.1:g.63540567A>G GRCh37
NC_000012.10:g.61826834A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*572T>C MANE Select ENSP00000299178.3:n.*572T>C
ENST00000299178.3:c.*572T>C ENSP00000299178.2:n.*572T>C
ENST00000550940.1:c.538+634T>C ENSP00000449822.1:n.538+634T>C
NM_000706.4:c.*572T>C NP_000697.1:n.*572T>C
XM_005269002.3:c.*572T>C XP_005269059.1:n.*572T>C
NM_000706.5:c.*572T>C MANE Select NP_000697.1:n.*572T>C