Canonical Allele Identifier: CA373445322
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1393029548
gnomAD v2: 9-37436676-G-A
gnomAD v4: 9-37436679-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436679G>A , CM000671.2:g.37436679G>A GRCh38
NC_000009.11:g.37436676G>A , CM000671.1:g.37436676G>A GRCh37
NC_000009.10:g.37426676G>A NCBI36
NG_008135.1:g.18970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.884G>A MANE Select ENSP00000313432.6:p.Gly295Asp
ENST00000318158.10:c.884G>A ENSP00000313432.6:p.Gly295Asp
ENST00000460882.5:n.911G>A
ENST00000480596.5:n.1585G>A
ENST00000491488.5:n.589G>A
ENST00000494290.1:c.*52-202G>A ENSP00000432021.1:n.*52-202G>A
ENST00000497693.1:n.4452G>A
NM_012203.1:c.884G>A NP_036335.1:p.Gly295Asp
XM_005251631.1:c.563G>A XP_005251688.1:p.Gly188Asp
XM_011518073.1:c.482G>A XP_011516375.1:p.Gly161Asp
XM_017015320.2:c.946-732G>A XP_016870809.1:n.946-732G>A
XM_017015321.2:c.866-732G>A XP_016870810.1:n.866-732G>A
XM_017015323.2:c.544-732G>A XP_016870812.1:n.544-732G>A
XM_024447716.1:c.1219-732G>A XP_024303484.1:n.1219-732G>A
XM_024447717.1:c.1139-732G>A XP_024303485.1:n.1139-732G>A
XR_002956828.1:n.1234-732G>A
XR_002956829.1:n.1154-732G>A
XR_002956830.1:n.2304G>A
XR_002956831.1:n.1979G>A
XR_002956832.1:n.1303G>A
NM_012203.2:c.884G>A MANE Select NP_036335.1:p.Gly295Asp