Canonical Allele Identifier: CA373445499
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436757C>G , CM000671.2:g.37436757C>G GRCh38
NC_000009.11:g.37436754C>G , CM000671.1:g.37436754C>G GRCh37
NC_000009.10:g.37426754C>G NCBI36
NG_008135.1:g.19048C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.962C>G MANE Select ENSP00000313432.6:p.Pro321Arg
ENST00000318158.10:c.962C>G ENSP00000313432.6:p.Pro321Arg
ENST00000460882.5:n.989C>G
ENST00000480596.5:n.1663C>G
ENST00000494290.1:c.*52-124C>G ENSP00000432021.1:n.*52-124C>G
ENST00000497693.1:n.4530C>G
NM_012203.1:c.962C>G NP_036335.1:p.Pro321Arg
XM_005251631.1:c.641C>G XP_005251688.1:p.Pro214Arg
XM_011518073.1:c.560C>G XP_011516375.1:p.Pro187Arg
XM_017015320.2:c.946-654C>G XP_016870809.1:n.946-654C>G
XM_017015321.2:c.866-654C>G XP_016870810.1:n.866-654C>G
XM_017015323.2:c.544-654C>G XP_016870812.1:n.544-654C>G
XM_024447716.1:c.1219-654C>G XP_024303484.1:n.1219-654C>G
XM_024447717.1:c.1139-654C>G XP_024303485.1:n.1139-654C>G
XR_002956828.1:n.1234-654C>G
XR_002956829.1:n.1154-654C>G
XR_002956830.1:n.2382C>G
XR_002956831.1:n.2057C>G
XR_002956832.1:n.1381C>G
NM_012203.2:c.962C>G MANE Select NP_036335.1:p.Pro321Arg