Canonical Allele Identifier: CA2619595495
Gene: AVPR1A HGNC NCBI

Linked Data

gnomAD v4: 12-63146947-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146947C>A , CM000674.2:g.63146947C>A GRCh38
NC_000012.11:g.63540727C>A , CM000674.1:g.63540727C>A GRCh37
NC_000012.10:g.61826994C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*412G>T MANE Select ENSP00000299178.3:n.*412G>T
ENST00000299178.3:c.*412G>T ENSP00000299178.2:n.*412G>T
ENST00000550940.1:c.538+474G>T ENSP00000449822.1:n.538+474G>T
NM_000706.4:c.*412G>T NP_000697.1:n.*412G>T
XM_005269002.3:c.*412G>T XP_005269059.1:n.*412G>T
NM_000706.5:c.*412G>T MANE Select NP_000697.1:n.*412G>T
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