Canonical Allele Identifier: CA238786795
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1044035226
gnomAD v4: 12-63146720-C-A
MyVariant Identifiers: chr12:g.63540500C>A (hg19) chr12:g.63146720C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146720C>A , CM000674.2:g.63146720C>A GRCh38
NC_000012.11:g.63540500C>A , CM000674.1:g.63540500C>A GRCh37
NC_000012.10:g.61826767C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000299178.4:c.*639G>T MANE Select ENSP00000299178.3:n.*639G>T
ENST00000299178.3:c.*639G>T ENSP00000299178.2:n.*639G>T
ENST00000550940.1:c.538+701G>T ENSP00000449822.1:n.538+701G>T
NM_000706.4:c.*639G>T NP_000697.1:n.*639G>T
XM_005269002.3:c.*639G>T XP_005269059.1:n.*639G>T
NM_000706.5:c.*639G>T MANE Select NP_000697.1:n.*639G>T
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