Canonical Allele Identifier: CA344455258
Gene: AVPR1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206116517A>T , CM000663.2:g.206116517A>T GRCh38
NC_000001.10:g.206224814T>A , CM000663.1:g.206224814T>A GRCh37
NC_000001.9:g.204391437T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367126.5:c.374T>A MANE Select ENSP00000356094.4:p.Leu125Gln
ENST00000367126.4:c.374T>A ENSP00000356094.4:p.Leu125Gln
ENST00000612906.1:n.36+1147T>A
NM_000707.3:c.374T>A NP_000698.1:p.Leu125Gln
NM_000707.4:c.374T>A NP_000698.1:p.Leu125Gln
NM_000707.5:c.374T>A MANE Select NP_000698.1:p.Leu125Gln