Canonical Allele Identifier: CA2581093694
Gene: AVPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146696C>G , CM000674.2:g.63146696C>G GRCh38
NC_000012.11:g.63540476C>G , CM000674.1:g.63540476C>G GRCh37
NC_000012.10:g.61826743C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000299178.4:c.*663G>C MANE Select ENSP00000299178.3:n.*663G>C
ENST00000299178.3:c.*663G>C ENSP00000299178.2:n.*663G>C
ENST00000550940.1:c.538+725G>C ENSP00000449822.1:n.538+725G>C
NM_000706.4:c.*663G>C NP_000697.1:n.*663G>C
XM_005269002.3:c.*663G>C XP_005269059.1:n.*663G>C
NM_000706.5:c.*663G>C MANE Select NP_000697.1:n.*663G>C