Canonical Allele Identifier: CA2682272002

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30979363-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979363A>C , CM000669.2:g.30979363A>C	GRCh38
NC_000007.13:g.31018978A>C , CM000669.1:g.31018978A>C	GRCh37
NC_000007.12:g.30985503A>C	NCBI36
NG_021416.1:g.20343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.*119A>C MANE Select	ENSP00000320180.2:n.*119A>C
ENST00000326139.6:c.*119A>C	ENSP00000320180.2:n.*119A>C
ENST00000337750.9:c.*607A>C	ENSP00000338184.4:n.*607A>C
ENST00000396227.6:c.*607A>C	ENSP00000379529.2:n.*607A>C
ENST00000409316.5:c.*234A>C	ENSP00000386602.1:n.*234A>C
ENST00000409904.7:c.*119A>C	ENSP00000387113.3:n.*119A>C
ENST00000461424.5:n.680+2805A>C
ENST00000463164.1:n.375A>C
ENST00000611037.1:c.550+2805A>C	ENSP00000480159.1:n.550+2805A>C
NM_000823.3:c.*119A>C	NP_000814.2:n.*119A>C
XM_011515263.1:c.*119A>C	XP_011513565.1:n.*119A>C
NM_000823.4:c.*119A>C MANE Select	NP_000814.2:n.*119A>C