Canonical Allele Identifier: CA1697952735
Community Standard Title: NM_000823.4(GHRHR):c.366+196G>A
Gene: GHRHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30970160G>A , CM000669.2:g.30970160G>A GRCh38
NC_000007.13:g.31009775G>A , CM000669.1:g.31009775G>A GRCh37
NC_000007.12:g.30976300G>A NCBI36
NG_021416.1:g.11140G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000823.4:c.366+196G>A MANE Select NP_000814.2:n.366+196G>A
ENST00000326139.7:c.366+196G>A MANE Select ENSP00000320180.2:n.366+196G>A
NM_000823.3:c.366+196G>A NP_000814.2:n.366+196G>A
ENST00000326139.6:c.366+196G>A ENSP00000320180.2:n.366+196G>A
ENST00000337750.9:c.174+196G>A ENSP00000338184.4:n.174+196G>A
ENST00000396227.6:c.174+196G>A ENSP00000379529.2:n.174+196G>A
ENST00000409316.5:c.-182+196G>A ENSP00000386602.1:n.-182+196G>A
ENST00000409904.7:c.174+196G>A ENSP00000387113.3:n.174+196G>A
XM_011515263.1:c.174+196G>A XP_011513565.1:n.174+196G>A