Canonical Allele Identifier: CA2041545203
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs1868362508
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146618C>G , CM000674.2:g.63146618C>G GRCh38
NC_000012.11:g.63540398C>G , CM000674.1:g.63540398C>G GRCh37
NC_000012.10:g.61826665C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*741G>C MANE Select ENSP00000299178.3:n.*741G>C
ENST00000299178.3:c.*741G>C ENSP00000299178.2:n.*741G>C
ENST00000550940.1:c.538+803G>C ENSP00000449822.1:n.538+803G>C
NM_000706.4:c.*741G>C NP_000697.1:n.*741G>C
XM_005269002.3:c.*741G>C XP_005269059.1:n.*741G>C
NM_000706.5:c.*741G>C MANE Select NP_000697.1:n.*741G>C
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