Canonical Allele Identifier: CA373442460
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs377116902
gnomAD v3: 9-37426557-A-C
gnomAD v4: 9-37426557-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426557A>C , CM000671.2:g.37426557A>C GRCh38
NC_000009.11:g.37426554A>C , CM000671.1:g.37426554A>C GRCh37
NC_000009.10:g.37416554A>C NCBI36
NG_008135.1:g.8848A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.307A>C MANE Select ENSP00000313432.6:p.Thr103Pro
ENST00000318158.10:c.307A>C ENSP00000313432.6:p.Thr103Pro
ENST00000377824.8:n.344A>C
ENST00000460882.5:n.334A>C
ENST00000487399.5:n.859A>C
ENST00000491488.5:n.110-1927A>C
ENST00000493368.5:n.364A>C
ENST00000607784.1:c.307A>C ENSP00000475569.1:p.Thr103Pro
NM_012203.1:c.307A>C NP_036335.1:p.Thr103Pro
XM_005251631.1:c.84-1927A>C XP_005251688.1:n.84-1927A>C
XM_011518073.1:c.-456A>C XP_011516375.1:n.-456A>C
XR_929374.1:n.392A>C
XM_017015320.2:c.307A>C XP_016870809.1:p.Thr103Pro
XM_017015321.2:c.307A>C XP_016870810.1:p.Thr103Pro
XM_017015323.2:c.-456A>C XP_016870812.1:n.-456A>C
XM_024447716.1:c.580A>C XP_024303484.1:p.Thr194Pro
XM_024447717.1:c.580A>C XP_024303485.1:p.Thr194Pro
XR_002956828.1:n.595A>C
XR_002956829.1:n.595A>C
XR_002956830.1:n.366A>C
XR_002956831.1:n.139-1927A>C
XR_002956832.1:n.366A>C
NM_012203.2:c.307A>C MANE Select NP_036335.1:p.Thr103Pro