Canonical Allele Identifier: CA4208395
Gene: GHRHR HGNC NCBI

Linked Data

dbSNP Id: rs759110872
gnomAD v2: 7-31008487-C-T
gnomAD v4: 7-30968872-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30968872C>T , CM000669.2:g.30968872C>T GRCh38
NC_000007.13:g.31008487C>T , CM000669.1:g.31008487C>T GRCh37
NC_000007.12:g.30975012C>T NCBI36
NG_021416.1:g.9852C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326139.7:c.96C>T MANE Select ENSP00000320180.2:p.Thr32=
ENST00000326139.6:c.96C>T ENSP00000320180.2:p.Thr32=
ENST00000466427.1:n.323C>T
NM_000823.3:c.96C>T NP_000814.2:p.Thr32=
NM_000823.4:c.96C>T MANE Select NP_000814.2:p.Thr32=