Canonical Allele Identifier: CA2682271978

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30979346-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979346G>A , CM000669.2:g.30979346G>A	GRCh38
NC_000007.13:g.31018961G>A , CM000669.1:g.31018961G>A	GRCh37
NC_000007.12:g.30985486G>A	NCBI36
NG_021416.1:g.20326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.*102G>A MANE Select	ENSP00000320180.2:n.*102G>A
ENST00000326139.6:c.*102G>A	ENSP00000320180.2:n.*102G>A
ENST00000337750.9:c.*590G>A	ENSP00000338184.4:n.*590G>A
ENST00000396227.6:c.*590G>A	ENSP00000379529.2:n.*590G>A
ENST00000409316.5:c.*217G>A	ENSP00000386602.1:n.*217G>A
ENST00000409904.7:c.*102G>A	ENSP00000387113.3:n.*102G>A
ENST00000461424.5:n.680+2788G>A
ENST00000463164.1:n.358G>A
ENST00000611037.1:c.550+2788G>A	ENSP00000480159.1:n.550+2788G>A
NM_000823.3:c.*102G>A	NP_000814.2:n.*102G>A
XM_011515263.1:c.*102G>A	XP_011513565.1:n.*102G>A
NM_000823.4:c.*102G>A MANE Select	NP_000814.2:n.*102G>A