Canonical Allele Identifier: CA213879

Gene: GHRHR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30972062C>T , CM000669.2:g.30972062C>T	GRCh38
NC_000007.13:g.31011677C>T , CM000669.1:g.31011677C>T	GRCh37
NC_000007.12:g.30978202C>T	NCBI36
NG_021416.1:g.13042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.564C>T MANE Select	ENSP00000320180.2:p.His188=
ENST00000326139.6:c.564C>T	ENSP00000320180.2:p.His188=
ENST00000337750.9:c.174+2098C>T	ENSP00000338184.4:n.174+2098C>T
ENST00000396227.6:c.372C>T	ENSP00000379529.2:p.His124=
ENST00000409316.5:c.17C>T	ENSP00000386602.1:p.Thr6Ile
ENST00000409904.7:c.372C>T	ENSP00000387113.3:p.His124=
ENST00000461390.1:n.32C>T
ENST00000461424.5:n.94C>T
ENST00000489974.5:n.337C>T
ENST00000611037.1:c.-37C>T	ENSP00000480159.1:n.-37C>T
NM_000823.3:c.564C>T	NP_000814.2:p.His188=
XM_011515263.1:c.372C>T	XP_011513565.1:p.His124=
NM_000823.4:c.564C>T MANE Select	NP_000814.2:p.His188=