Canonical Allele Identifier: CA192887736
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs971302096
gnomAD v3: 9-37425852-G-C
gnomAD v4: 9-37425852-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425852G>C , CM000671.2:g.37425852G>C GRCh38
NC_000009.11:g.37425849G>C , CM000671.1:g.37425849G>C GRCh37
NC_000009.10:g.37415849G>C NCBI36
NG_008135.1:g.8143G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.215-70G>C MANE Select ENSP00000313432.6:n.215-70G>C
ENST00000318158.10:c.215-70G>C ENSP00000313432.6:n.215-70G>C
ENST00000377824.8:n.252-70G>C
ENST00000460882.5:n.242-70G>C
ENST00000487399.5:n.224-70G>C
ENST00000491488.5:n.110-2632G>C
ENST00000493368.5:n.272-70G>C
ENST00000607784.1:c.215-70G>C ENSP00000475569.1:n.215-70G>C
NM_012203.1:c.215-70G>C NP_036335.1:n.215-70G>C
XM_005251631.1:c.84-2632G>C XP_005251688.1:n.84-2632G>C
XM_011518073.1:c.-548-70G>C XP_011516375.1:n.-548-70G>C
XR_929374.1:n.300-70G>C
XM_017015320.2:c.215-70G>C XP_016870809.1:n.215-70G>C
XM_017015321.2:c.215-70G>C XP_016870810.1:n.215-70G>C
XM_017015323.2:c.-548-70G>C XP_016870812.1:n.-548-70G>C
XM_024447716.1:c.488-70G>C XP_024303484.1:n.488-70G>C
XM_024447717.1:c.488-70G>C XP_024303485.1:n.488-70G>C
XR_002956828.1:n.503-70G>C
XR_002956829.1:n.503-70G>C
XR_002956830.1:n.274-70G>C
XR_002956831.1:n.139-2632G>C
XR_002956832.1:n.274-70G>C
NM_012203.2:c.215-70G>C MANE Select NP_036335.1:n.215-70G>C