Canonical Allele Identifier: CA344455250
Gene: AVPR1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206116512C>T , CM000663.2:g.206116512C>T GRCh38
NC_000001.10:g.206224819G>A , CM000663.1:g.206224819G>A GRCh37
NC_000001.9:g.204391442G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367126.5:c.379G>A MANE Select ENSP00000356094.4:p.Ala127Thr
ENST00000367126.4:c.379G>A ENSP00000356094.4:p.Ala127Thr
ENST00000612906.1:n.36+1152G>A
NM_000707.3:c.379G>A NP_000698.1:p.Ala127Thr
NM_000707.4:c.379G>A NP_000698.1:p.Ala127Thr
NM_000707.5:c.379G>A MANE Select NP_000698.1:p.Ala127Thr