Canonical Allele Identifier: CA654943488
Gene: AVPR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146975C>G , CM000674.2:g.63146975C>G GRCh38
NC_000012.11:g.63540755C>G , CM000674.1:g.63540755C>G GRCh37
NC_000012.10:g.61827022C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*384G>C MANE Select ENSP00000299178.3:n.*384G>C
ENST00000299178.3:c.*384G>C ENSP00000299178.2:n.*384G>C
ENST00000550940.1:c.538+446G>C ENSP00000449822.1:n.538+446G>C
NM_000706.4:c.*384G>C NP_000697.1:n.*384G>C
XM_005269002.3:c.*384G>C XP_005269059.1:n.*384G>C
NM_000706.5:c.*384G>C MANE Select NP_000697.1:n.*384G>C