Canonical Allele Identifier: CA2682272087
Gene: GHRHR HGNC NCBI

Linked Data

gnomAD v4: 7-30979454-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30979454C>T , CM000669.2:g.30979454C>T GRCh38
NC_000007.13:g.31019069C>T , CM000669.1:g.31019069C>T GRCh37
NC_000007.12:g.30985594C>T NCBI36
NG_021416.1:g.20434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326139.7:c.*210C>T MANE Select ENSP00000320180.2:n.*210C>T
ENST00000326139.6:c.*210C>T ENSP00000320180.2:n.*210C>T
ENST00000337750.9:c.*698C>T ENSP00000338184.4:n.*698C>T
ENST00000396227.6:c.*698C>T ENSP00000379529.2:n.*698C>T
ENST00000409316.5:c.*325C>T ENSP00000386602.1:n.*325C>T
ENST00000409904.7:c.*210C>T ENSP00000387113.3:n.*210C>T
ENST00000461424.5:n.680+2896C>T
ENST00000463164.1:n.466C>T
ENST00000611037.1:c.550+2896C>T ENSP00000480159.1:n.550+2896C>T
NM_000823.3:c.*210C>T NP_000814.2:n.*210C>T
XM_011515263.1:c.*210C>T XP_011513565.1:n.*210C>T
NM_000823.4:c.*210C>T MANE Select NP_000814.2:n.*210C>T