Canonical Allele Identifier: CA948470429
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1785254323
gnomAD v3: 12-63146906-T-C
gnomAD v4: 12-63146906-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146906T>C , CM000674.2:g.63146906T>C GRCh38
NC_000012.11:g.63540686T>C , CM000674.1:g.63540686T>C GRCh37
NC_000012.10:g.61826953T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*453A>G MANE Select ENSP00000299178.3:n.*453A>G
ENST00000299178.3:c.*453A>G ENSP00000299178.2:n.*453A>G
ENST00000550940.1:c.538+515A>G ENSP00000449822.1:n.538+515A>G
NM_000706.4:c.*453A>G NP_000697.1:n.*453A>G
XM_005269002.3:c.*453A>G XP_005269059.1:n.*453A>G
NM_000706.5:c.*453A>G MANE Select NP_000697.1:n.*453A>G
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