Canonical Allele Identifier: CA2682272005
Gene: GHRHR HGNC NCBI

Linked Data

gnomAD v4: 7-30979366-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30979366T>A , CM000669.2:g.30979366T>A GRCh38
NC_000007.13:g.31018981T>A , CM000669.1:g.31018981T>A GRCh37
NC_000007.12:g.30985506T>A NCBI36
NG_021416.1:g.20346T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326139.7:c.*122T>A MANE Select ENSP00000320180.2:n.*122T>A
ENST00000326139.6:c.*122T>A ENSP00000320180.2:n.*122T>A
ENST00000337750.9:c.*610T>A ENSP00000338184.4:n.*610T>A
ENST00000396227.6:c.*610T>A ENSP00000379529.2:n.*610T>A
ENST00000409316.5:c.*237T>A ENSP00000386602.1:n.*237T>A
ENST00000409904.7:c.*122T>A ENSP00000387113.3:n.*122T>A
ENST00000461424.5:n.680+2808T>A
ENST00000463164.1:n.378T>A
ENST00000611037.1:c.550+2808T>A ENSP00000480159.1:n.550+2808T>A
NM_000823.3:c.*122T>A NP_000814.2:n.*122T>A
XM_011515263.1:c.*122T>A XP_011513565.1:n.*122T>A
NM_000823.4:c.*122T>A MANE Select NP_000814.2:n.*122T>A