Canonical Allele Identifier: CA4208557

Gene: GHRHR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30972025C>T , CM000669.2:g.30972025C>T	GRCh38
NC_000007.13:g.31011640C>T , CM000669.1:g.31011640C>T	GRCh37
NC_000007.12:g.30978165C>T	NCBI36
NG_021416.1:g.13005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.527C>T MANE Select	ENSP00000320180.2:p.Ala176Val
ENST00000326139.6:c.527C>T	ENSP00000320180.2:p.Ala176Val
ENST00000337750.9:c.174+2061C>T	ENSP00000338184.4:n.174+2061C>T
ENST00000396227.6:c.335C>T	ENSP00000379529.2:p.Ala112Val
ENST00000409316.5:c.-21C>T	ENSP00000386602.1:n.-21C>T
ENST00000409904.7:c.335C>T	ENSP00000387113.3:p.Ala112Val
ENST00000461424.5:n.57C>T
ENST00000489974.5:n.300C>T
ENST00000611037.1:c.-74C>T	ENSP00000480159.1:n.-74C>T
NM_000823.3:c.527C>T	NP_000814.2:p.Ala176Val
XM_011515263.1:c.335C>T	XP_011513565.1:p.Ala112Val
NM_000823.4:c.527C>T MANE Select	NP_000814.2:p.Ala176Val