Canonical Allele Identifier: CA587805513
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs370704714
gnomAD v2: 9-37436815-G-T
gnomAD v4: 9-37436818-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436818G>T , CM000671.2:g.37436818G>T GRCh38
NC_000009.11:g.37436815G>T , CM000671.1:g.37436815G>T GRCh37
NC_000009.10:g.37426815G>T NCBI36
NG_008135.1:g.19109G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*36G>T MANE Select ENSP00000313432.6:n.*36G>T
ENST00000318158.10:c.*36G>T ENSP00000313432.6:n.*36G>T
ENST00000460882.5:n.1050G>T
ENST00000480596.5:n.1724G>T
ENST00000494290.1:c.*52-63G>T ENSP00000432021.1:n.*52-63G>T
ENST00000497693.1:n.4591G>T
NM_012203.1:c.*36G>T NP_036335.1:n.*36G>T
XM_005251631.1:c.*36G>T XP_005251688.1:n.*36G>T
XM_011518073.1:c.*36G>T XP_011516375.1:n.*36G>T
XM_017015320.2:c.946-593G>T XP_016870809.1:n.946-593G>T
XM_017015321.2:c.866-593G>T XP_016870810.1:n.866-593G>T
XM_017015323.2:c.544-593G>T XP_016870812.1:n.544-593G>T
XM_024447716.1:c.1219-593G>T XP_024303484.1:n.1219-593G>T
XM_024447717.1:c.1139-593G>T XP_024303485.1:n.1139-593G>T
XR_002956828.1:n.1234-593G>T
XR_002956829.1:n.1154-593G>T
XR_002956830.1:n.2443G>T
XR_002956831.1:n.2118G>T
XR_002956832.1:n.1442G>T
NM_012203.2:c.*36G>T MANE Select NP_036335.1:n.*36G>T