Canonical Allele Identifier: CA2619595349
Gene: AVPR1A HGNC NCBI

Linked Data

gnomAD v4: 12-63146602-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146602C>A , CM000674.2:g.63146602C>A GRCh38
NC_000012.11:g.63540382C>A , CM000674.1:g.63540382C>A GRCh37
NC_000012.10:g.61826649C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*757G>T MANE Select ENSP00000299178.3:n.*757G>T
ENST00000299178.3:c.*757G>T ENSP00000299178.2:n.*757G>T
ENST00000550940.1:c.538+819G>T ENSP00000449822.1:n.538+819G>T
NM_000706.4:c.*757G>T NP_000697.1:n.*757G>T
XM_005269002.3:c.*757G>T XP_005269059.1:n.*757G>T
NM_000706.5:c.*757G>T MANE Select NP_000697.1:n.*757G>T
Search 100 bp 5'
Search 100 bp 3'