Canonical Allele Identifier: CA2682269105
Gene: GHRHR HGNC NCBI

Linked Data

gnomAD v4: 7-30968991-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30968991C>T , CM000669.2:g.30968991C>T GRCh38
NC_000007.13:g.31008606C>T , CM000669.1:g.31008606C>T GRCh37
NC_000007.12:g.30975131C>T NCBI36
NG_021416.1:g.9971C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326139.7:c.160+55C>T MANE Select ENSP00000320180.2:n.160+55C>T
ENST00000326139.6:c.160+55C>T ENSP00000320180.2:n.160+55C>T
NM_000823.3:c.160+55C>T NP_000814.2:n.160+55C>T
NM_000823.4:c.160+55C>T MANE Select NP_000814.2:n.160+55C>T