Canonical Allele Identifier: CA192896364
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs535362163
gnomAD v2: 9-37436991-C-T
gnomAD v3: 9-37436994-C-T
gnomAD v4: 9-37436994-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436994C>T , CM000671.2:g.37436994C>T GRCh38
NC_000009.11:g.37436991C>T , CM000671.1:g.37436991C>T GRCh37
NC_000009.10:g.37426991C>T NCBI36
NG_008135.1:g.19285C>T

Transcript Alleles

HGVS Amino-acid Change
XM_017015320.2:c.946-417C>T XP_016870809.1:n.946-417C>T
XM_017015321.2:c.866-417C>T XP_016870810.1:n.866-417C>T
XM_017015323.2:c.544-417C>T XP_016870812.1:n.544-417C>T
XM_024447716.1:c.1219-417C>T XP_024303484.1:n.1219-417C>T
XM_024447717.1:c.1139-417C>T XP_024303485.1:n.1139-417C>T
XR_002956828.1:n.1234-417C>T
XR_002956829.1:n.1154-417C>T