Canonical Allele Identifier: CA373445344
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436690C>T , CM000671.2:g.37436690C>T GRCh38
NC_000009.11:g.37436687C>T , CM000671.1:g.37436687C>T GRCh37
NC_000009.10:g.37426687C>T NCBI36
NG_008135.1:g.18981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.895C>T MANE Select ENSP00000313432.6:p.His299Tyr
ENST00000318158.10:c.895C>T ENSP00000313432.6:p.His299Tyr
ENST00000460882.5:n.922C>T
ENST00000480596.5:n.1596C>T
ENST00000491488.5:n.600C>T
ENST00000494290.1:c.*52-191C>T ENSP00000432021.1:n.*52-191C>T
ENST00000497693.1:n.4463C>T
NM_012203.1:c.895C>T NP_036335.1:p.His299Tyr
XM_005251631.1:c.574C>T XP_005251688.1:p.His192Tyr
XM_011518073.1:c.493C>T XP_011516375.1:p.His165Tyr
XM_017015320.2:c.946-721C>T XP_016870809.1:n.946-721C>T
XM_017015321.2:c.866-721C>T XP_016870810.1:n.866-721C>T
XM_017015323.2:c.544-721C>T XP_016870812.1:n.544-721C>T
XM_024447716.1:c.1219-721C>T XP_024303484.1:n.1219-721C>T
XM_024447717.1:c.1139-721C>T XP_024303485.1:n.1139-721C>T
XR_002956828.1:n.1234-721C>T
XR_002956829.1:n.1154-721C>T
XR_002956830.1:n.2315C>T
XR_002956831.1:n.1990C>T
XR_002956832.1:n.1314C>T
NM_012203.2:c.895C>T MANE Select NP_036335.1:p.His299Tyr