Canonical Allele Identifier: CA863758217
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1397437767
gnomAD v3: 9-37426531-T-C
gnomAD v4: 9-37426531-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426531T>C , CM000671.2:g.37426531T>C GRCh38
NC_000009.11:g.37426528T>C , CM000671.1:g.37426528T>C GRCh37
NC_000009.10:g.37416528T>C NCBI36
NG_008135.1:g.8822T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.288-7T>C MANE Select ENSP00000313432.6:n.288-7T>C
ENST00000318158.10:c.288-7T>C ENSP00000313432.6:n.288-7T>C
ENST00000377824.8:n.325-7T>C
ENST00000460882.5:n.315-7T>C
ENST00000487399.5:n.833T>C
ENST00000491488.5:n.110-1953T>C
ENST00000493368.5:n.345-7T>C
ENST00000607784.1:c.288-7T>C ENSP00000475569.1:n.288-7T>C
NM_012203.1:c.288-7T>C NP_036335.1:n.288-7T>C
XM_005251631.1:c.84-1953T>C XP_005251688.1:n.84-1953T>C
XM_011518073.1:c.-475-7T>C XP_011516375.1:n.-475-7T>C
XR_929374.1:n.373-7T>C
XM_017015320.2:c.288-7T>C XP_016870809.1:n.288-7T>C
XM_017015321.2:c.288-7T>C XP_016870810.1:n.288-7T>C
XM_017015323.2:c.-475-7T>C XP_016870812.1:n.-475-7T>C
XM_024447716.1:c.561-7T>C XP_024303484.1:n.561-7T>C
XM_024447717.1:c.561-7T>C XP_024303485.1:n.561-7T>C
XR_002956828.1:n.576-7T>C
XR_002956829.1:n.576-7T>C
XR_002956830.1:n.347-7T>C
XR_002956831.1:n.139-1953T>C
XR_002956832.1:n.347-7T>C
NM_012203.2:c.288-7T>C MANE Select NP_036335.1:n.288-7T>C