Canonical Allele Identifier: CA2619595499
Gene: AVPR1A HGNC NCBI

Linked Data

gnomAD v4: 12-63146969-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146969A>G , CM000674.2:g.63146969A>G GRCh38
NC_000012.11:g.63540749A>G , CM000674.1:g.63540749A>G GRCh37
NC_000012.10:g.61827016A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*390T>C MANE Select ENSP00000299178.3:n.*390T>C
ENST00000299178.3:c.*390T>C ENSP00000299178.2:n.*390T>C
ENST00000550940.1:c.538+452T>C ENSP00000449822.1:n.538+452T>C
NM_000706.4:c.*390T>C NP_000697.1:n.*390T>C
XM_005269002.3:c.*390T>C XP_005269059.1:n.*390T>C
NM_000706.5:c.*390T>C MANE Select NP_000697.1:n.*390T>C
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