Canonical Allele Identifier: CA373445439
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436736T>G , CM000671.2:g.37436736T>G GRCh38
NC_000009.11:g.37436733T>G , CM000671.1:g.37436733T>G GRCh37
NC_000009.10:g.37426733T>G NCBI36
NG_008135.1:g.19027T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.941T>G MANE Select ENSP00000313432.6:p.Leu314Arg
ENST00000318158.10:c.941T>G ENSP00000313432.6:p.Leu314Arg
ENST00000460882.5:n.968T>G
ENST00000480596.5:n.1642T>G
ENST00000494290.1:c.*52-145T>G ENSP00000432021.1:n.*52-145T>G
ENST00000497693.1:n.4509T>G
NM_012203.1:c.941T>G NP_036335.1:p.Leu314Arg
XM_005251631.1:c.620T>G XP_005251688.1:p.Leu207Arg
XM_011518073.1:c.539T>G XP_011516375.1:p.Leu180Arg
XM_017015320.2:c.946-675T>G XP_016870809.1:n.946-675T>G
XM_017015321.2:c.866-675T>G XP_016870810.1:n.866-675T>G
XM_017015323.2:c.544-675T>G XP_016870812.1:n.544-675T>G
XM_024447716.1:c.1219-675T>G XP_024303484.1:n.1219-675T>G
XM_024447717.1:c.1139-675T>G XP_024303485.1:n.1139-675T>G
XR_002956828.1:n.1234-675T>G
XR_002956829.1:n.1154-675T>G
XR_002956830.1:n.2361T>G
XR_002956831.1:n.2036T>G
XR_002956832.1:n.1360T>G
NM_012203.2:c.941T>G MANE Select NP_036335.1:p.Leu314Arg