Canonical Allele Identifier: CA2682272093

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30979461-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979461C>A , CM000669.2:g.30979461C>A	GRCh38
NC_000007.13:g.31019076C>A , CM000669.1:g.31019076C>A	GRCh37
NC_000007.12:g.30985601C>A	NCBI36
NG_021416.1:g.20441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.*217C>A MANE Select	ENSP00000320180.2:n.*217C>A
ENST00000326139.6:c.*217C>A	ENSP00000320180.2:n.*217C>A
ENST00000337750.9:c.*705C>A	ENSP00000338184.4:n.*705C>A
ENST00000396227.6:c.*705C>A	ENSP00000379529.2:n.*705C>A
ENST00000409316.5:c.*332C>A	ENSP00000386602.1:n.*332C>A
ENST00000409904.7:c.*217C>A	ENSP00000387113.3:n.*217C>A
ENST00000461424.5:n.680+2903C>A
ENST00000463164.1:n.473C>A
ENST00000611037.1:c.550+2903C>A	ENSP00000480159.1:n.550+2903C>A
NM_000823.3:c.*217C>A	NP_000814.2:n.*217C>A
XM_011515263.1:c.*217C>A	XP_011513565.1:n.*217C>A
NM_000823.4:c.*217C>A MANE Select	NP_000814.2:n.*217C>A