Canonical Allele Identifier: CA373444490
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432076T>C , CM000671.2:g.37432076T>C GRCh38
NC_000009.11:g.37432073T>C , CM000671.1:g.37432073T>C GRCh37
NC_000009.10:g.37422073T>C NCBI36
NG_008135.1:g.14367T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.803T>C MANE Select ENSP00000313432.6:p.Leu268Pro
ENST00000318158.10:c.803T>C ENSP00000313432.6:p.Leu268Pro
ENST00000460882.5:n.830T>C
ENST00000480596.5:n.1504T>C
ENST00000482603.1:n.256T>C
ENST00000491488.5:n.508T>C
ENST00000494290.1:c.*51+925T>C ENSP00000432021.1:n.*51+925T>C
ENST00000497693.1:n.4371T>C
ENST00000607784.1:c.803T>C ENSP00000475569.1:p.Leu268Pro
NM_012203.1:c.803T>C NP_036335.1:p.Leu268Pro
XM_005251631.1:c.482T>C XP_005251688.1:p.Leu161Pro
XM_011518073.1:c.401T>C XP_011516375.1:p.Leu134Pro
XM_017015320.2:c.803T>C XP_016870809.1:p.Leu268Pro
XM_017015321.2:c.803T>C XP_016870810.1:p.Leu268Pro
XM_017015323.2:c.401T>C XP_016870812.1:p.Leu134Pro
XM_024447716.1:c.1076T>C XP_024303484.1:p.Leu359Pro
XM_024447717.1:c.1076T>C XP_024303485.1:p.Leu359Pro
XR_002956828.1:n.1091T>C
XR_002956829.1:n.1091T>C
XR_002956830.1:n.2223T>C
XR_002956831.1:n.1898T>C
XR_002956832.1:n.1222T>C
NM_012203.2:c.803T>C MANE Select NP_036335.1:p.Leu268Pro