Canonical Allele Identifier: CA690781844
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1216053185
gnomAD v3: 12-63146856-C-T
gnomAD v4: 12-63146856-C-T
MyVariant Identifiers: chr12:g.63540636C>T (hg19) chr12:g.63146856C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146856C>T , CM000674.2:g.63146856C>T GRCh38
NC_000012.11:g.63540636C>T , CM000674.1:g.63540636C>T GRCh37
NC_000012.10:g.61826903C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*503G>A MANE Select ENSP00000299178.3:n.*503G>A
ENST00000299178.3:c.*503G>A ENSP00000299178.2:n.*503G>A
ENST00000550940.1:c.538+565G>A ENSP00000449822.1:n.538+565G>A
NM_000706.4:c.*503G>A NP_000697.1:n.*503G>A
XM_005269002.3:c.*503G>A XP_005269059.1:n.*503G>A
NM_000706.5:c.*503G>A MANE Select NP_000697.1:n.*503G>A
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