Canonical Allele Identifier: CA2619595488
Gene: AVPR1A HGNC NCBI

Linked Data

gnomAD v4: 12-63146891-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146891T>G , CM000674.2:g.63146891T>G GRCh38
NC_000012.11:g.63540671T>G , CM000674.1:g.63540671T>G GRCh37
NC_000012.10:g.61826938T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*468A>C MANE Select ENSP00000299178.3:n.*468A>C
ENST00000299178.3:c.*468A>C ENSP00000299178.2:n.*468A>C
ENST00000550940.1:c.538+530A>C ENSP00000449822.1:n.538+530A>C
NM_000706.4:c.*468A>C NP_000697.1:n.*468A>C
XM_005269002.3:c.*468A>C XP_005269059.1:n.*468A>C
NM_000706.5:c.*468A>C MANE Select NP_000697.1:n.*468A>C
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