Canonical Allele Identifier: CA2682272099

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30979468-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979468T>A , CM000669.2:g.30979468T>A	GRCh38
NC_000007.13:g.31019083T>A , CM000669.1:g.31019083T>A	GRCh37
NC_000007.12:g.30985608T>A	NCBI36
NG_021416.1:g.20448T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326139.7:c.*224T>A MANE Select	ENSP00000320180.2:n.*224T>A
ENST00000326139.6:c.*224T>A	ENSP00000320180.2:n.*224T>A
ENST00000337750.9:c.*712T>A	ENSP00000338184.4:n.*712T>A
ENST00000396227.6:c.*712T>A	ENSP00000379529.2:n.*712T>A
ENST00000409316.5:c.*339T>A	ENSP00000386602.1:n.*339T>A
ENST00000409904.7:c.*224T>A	ENSP00000387113.3:n.*224T>A
ENST00000461424.5:n.680+2910T>A
ENST00000463164.1:n.480T>A
ENST00000611037.1:c.550+2910T>A	ENSP00000480159.1:n.550+2910T>A
NM_000823.3:c.*224T>A	NP_000814.2:n.*224T>A
XM_011515263.1:c.*224T>A	XP_011513565.1:n.*224T>A
NM_000823.4:c.*224T>A MANE Select	NP_000814.2:n.*224T>A