Canonical Allele Identifier: CA863723512
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1301608218
gnomAD v4: 9-37436903-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436903T>G , CM000671.2:g.37436903T>G GRCh38
NC_000009.11:g.37436900T>G , CM000671.1:g.37436900T>G GRCh37
NC_000009.10:g.37426900T>G NCBI36
NG_008135.1:g.19194T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.*121T>G MANE Select ENSP00000313432.6:n.*121T>G
ENST00000318158.10:c.*121T>G ENSP00000313432.6:n.*121T>G
ENST00000480596.5:n.1809T>G
ENST00000494290.1:c.*74T>G ENSP00000432021.1:n.*74T>G
ENST00000497693.1:n.4676T>G
NM_012203.1:c.*121T>G NP_036335.1:n.*121T>G
XM_005251631.1:c.*121T>G XP_005251688.1:n.*121T>G
XM_011518073.1:c.*121T>G XP_011516375.1:n.*121T>G
XM_017015320.2:c.946-508T>G XP_016870809.1:n.946-508T>G
XM_017015321.2:c.866-508T>G XP_016870810.1:n.866-508T>G
XM_017015323.2:c.544-508T>G XP_016870812.1:n.544-508T>G
XM_024447716.1:c.1219-508T>G XP_024303484.1:n.1219-508T>G
XM_024447717.1:c.1139-508T>G XP_024303485.1:n.1139-508T>G
XR_002956828.1:n.1234-508T>G
XR_002956829.1:n.1154-508T>G
XR_002956830.1:n.2528T>G
XR_002956831.1:n.2203T>G
XR_002956832.1:n.1527T>G
NM_012203.2:c.*121T>G MANE Select NP_036335.1:n.*121T>G