Canonical Allele Identifier: CA367149526
Gene: GHRHR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30968934T>A , CM000669.2:g.30968934T>A GRCh38
NC_000007.13:g.31008549T>A , CM000669.1:g.31008549T>A GRCh37
NC_000007.12:g.30975074T>A NCBI36
NG_021416.1:g.9914T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326139.7:c.158T>A MANE Select ENSP00000320180.2:p.Leu53Gln
ENST00000326139.6:c.158T>A ENSP00000320180.2:p.Leu53Gln
NM_000823.3:c.158T>A NP_000814.2:p.Leu53Gln
NM_000823.4:c.158T>A MANE Select NP_000814.2:p.Leu53Gln