Canonical Allele Identifier: CA654943485
Gene: AVPR1A HGNC NCBI

Linked Data

COSMIC: COSN16144178
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146968G>T , CM000674.2:g.63146968G>T GRCh38
NC_000012.11:g.63540748G>T , CM000674.1:g.63540748G>T GRCh37
NC_000012.10:g.61827015G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*391C>A MANE Select ENSP00000299178.3:n.*391C>A
ENST00000299178.3:c.*391C>A ENSP00000299178.2:n.*391C>A
ENST00000550940.1:c.538+453C>A ENSP00000449822.1:n.538+453C>A
NM_000706.4:c.*391C>A NP_000697.1:n.*391C>A
XM_005269002.3:c.*391C>A XP_005269059.1:n.*391C>A
NM_000706.5:c.*391C>A MANE Select NP_000697.1:n.*391C>A
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