Canonical Allele Identifier: CA2578860309
Gene: GHRHR HGNC NCBI

Linked Data

gnomAD v4: 7-30968992-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30968992C>A , CM000669.2:g.30968992C>A GRCh38
NC_000007.13:g.31008607C>A , CM000669.1:g.31008607C>A GRCh37
NC_000007.12:g.30975132C>A NCBI36
NG_021416.1:g.9972C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326139.7:c.160+56C>A MANE Select ENSP00000320180.2:n.160+56C>A
ENST00000326139.6:c.160+56C>A ENSP00000320180.2:n.160+56C>A
NM_000823.3:c.160+56C>A NP_000814.2:n.160+56C>A
NM_000823.4:c.160+56C>A MANE Select NP_000814.2:n.160+56C>A