Canonical Allele Identifier: CA837559374
Gene: GHRHR HGNC NCBI

Linked Data

dbSNP Id: rs1170229485
gnomAD v3: 7-30968973-T-C
gnomAD v4: 7-30968973-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30968973T>C , CM000669.2:g.30968973T>C GRCh38
NC_000007.13:g.31008588T>C , CM000669.1:g.31008588T>C GRCh37
NC_000007.12:g.30975113T>C NCBI36
NG_021416.1:g.9953T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326139.7:c.160+37T>C MANE Select ENSP00000320180.2:n.160+37T>C
ENST00000326139.6:c.160+37T>C ENSP00000320180.2:n.160+37T>C
NM_000823.3:c.160+37T>C NP_000814.2:n.160+37T>C
NM_000823.4:c.160+37T>C MANE Select NP_000814.2:n.160+37T>C