Canonical Allele Identifier: CA2041545525
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1592331867
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146957A>C , CM000674.2:g.63146957A>C GRCh38
NC_000012.11:g.63540737A>C , CM000674.1:g.63540737A>C GRCh37
NC_000012.10:g.61827004A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*402T>G MANE Select ENSP00000299178.3:n.*402T>G
ENST00000299178.3:c.*402T>G ENSP00000299178.2:n.*402T>G
ENST00000550940.1:c.538+464T>G ENSP00000449822.1:n.538+464T>G
NM_000706.4:c.*402T>G NP_000697.1:n.*402T>G
XM_005269002.3:c.*402T>G XP_005269059.1:n.*402T>G
NM_000706.5:c.*402T>G MANE Select NP_000697.1:n.*402T>G
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