Canonical Allele Identifier: CA2682271994

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30979358-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979358G>T , CM000669.2:g.30979358G>T	GRCh38
NC_000007.13:g.31018973G>T , CM000669.1:g.31018973G>T	GRCh37
NC_000007.12:g.30985498G>T	NCBI36
NG_021416.1:g.20338G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326139.7:c.*114G>T MANE Select	ENSP00000320180.2:n.*114G>T
ENST00000326139.6:c.*114G>T	ENSP00000320180.2:n.*114G>T
ENST00000337750.9:c.*602G>T	ENSP00000338184.4:n.*602G>T
ENST00000396227.6:c.*602G>T	ENSP00000379529.2:n.*602G>T
ENST00000409316.5:c.*229G>T	ENSP00000386602.1:n.*229G>T
ENST00000409904.7:c.*114G>T	ENSP00000387113.3:n.*114G>T
ENST00000461424.5:n.680+2800G>T
ENST00000463164.1:n.370G>T
ENST00000611037.1:c.550+2800G>T	ENSP00000480159.1:n.550+2800G>T
NM_000823.3:c.*114G>T	NP_000814.2:n.*114G>T
XM_011515263.1:c.*114G>T	XP_011513565.1:n.*114G>T
NM_000823.4:c.*114G>T MANE Select	NP_000814.2:n.*114G>T