Canonical Allele Identifier: CA2682272095

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30979463-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979463A>T , CM000669.2:g.30979463A>T	GRCh38
NC_000007.13:g.31019078A>T , CM000669.1:g.31019078A>T	GRCh37
NC_000007.12:g.30985603A>T	NCBI36
NG_021416.1:g.20443A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326139.7:c.*219A>T MANE Select	ENSP00000320180.2:n.*219A>T
ENST00000326139.6:c.*219A>T	ENSP00000320180.2:n.*219A>T
ENST00000337750.9:c.*707A>T	ENSP00000338184.4:n.*707A>T
ENST00000396227.6:c.*707A>T	ENSP00000379529.2:n.*707A>T
ENST00000409316.5:c.*334A>T	ENSP00000386602.1:n.*334A>T
ENST00000409904.7:c.*219A>T	ENSP00000387113.3:n.*219A>T
ENST00000461424.5:n.680+2905A>T
ENST00000463164.1:n.475A>T
ENST00000611037.1:c.550+2905A>T	ENSP00000480159.1:n.550+2905A>T
NM_000823.3:c.*219A>T	NP_000814.2:n.*219A>T
XM_011515263.1:c.*219A>T	XP_011513565.1:n.*219A>T
NM_000823.4:c.*219A>T MANE Select	NP_000814.2:n.*219A>T