Canonical Allele Identifier: CA2796277894
Gene: AVPR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146865T>C , CM000674.2:g.63146865T>C GRCh38
NC_000012.11:g.63540645T>C , CM000674.1:g.63540645T>C GRCh37
NC_000012.10:g.61826912T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*494A>G MANE Select ENSP00000299178.3:n.*494A>G
ENST00000299178.3:c.*494A>G ENSP00000299178.2:n.*494A>G
ENST00000550940.1:c.538+556A>G ENSP00000449822.1:n.538+556A>G
NM_000706.4:c.*494A>G NP_000697.1:n.*494A>G
XM_005269002.3:c.*494A>G XP_005269059.1:n.*494A>G
NM_000706.5:c.*494A>G MANE Select NP_000697.1:n.*494A>G