Canonical Allele Identifier: CA238786808
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs570678571
gnomAD v2: 12-63540677-T-C
gnomAD v3: 12-63146897-T-C
gnomAD v4: 12-63146897-T-C
MyVariant Identifiers: chr12:g.63540677T>C (hg19) chr12:g.63146897T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146897T>C , CM000674.2:g.63146897T>C GRCh38
NC_000012.11:g.63540677T>C , CM000674.1:g.63540677T>C GRCh37
NC_000012.10:g.61826944T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*462A>G MANE Select ENSP00000299178.3:n.*462A>G
ENST00000299178.3:c.*462A>G ENSP00000299178.2:n.*462A>G
ENST00000550940.1:c.538+524A>G ENSP00000449822.1:n.538+524A>G
NM_000706.4:c.*462A>G NP_000697.1:n.*462A>G
XM_005269002.3:c.*462A>G XP_005269059.1:n.*462A>G
NM_000706.5:c.*462A>G MANE Select NP_000697.1:n.*462A>G
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