Canonical Allele Identifier: CA373442854
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428573G>C , CM000671.2:g.37428573G>C GRCh38
NC_000009.11:g.37428570G>C , CM000671.1:g.37428570G>C GRCh37
NC_000009.10:g.37418570G>C NCBI36
NG_008135.1:g.10864G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+1G>C MANE Select ENSP00000313432.6:n.493+1G>C
ENST00000318158.10:c.493+1G>C ENSP00000313432.6:n.493+1G>C
ENST00000377824.8:n.530+1G>C
ENST00000460882.5:n.520+1G>C
ENST00000480596.5:n.36G>C
ENST00000491488.5:n.198+1G>C
ENST00000493368.5:n.551G>C
ENST00000497693.1:n.868G>C
ENST00000607784.1:c.493+1G>C ENSP00000475569.1:n.493+1G>C
NM_012203.1:c.493+1G>C NP_036335.1:n.493+1G>C
XM_005251631.1:c.172+1G>C XP_005251688.1:n.172+1G>C
XM_011518073.1:c.-269G>C XP_011516375.1:n.-269G>C
XR_929374.1:n.579G>C
XM_017015320.2:c.493+1G>C XP_016870809.1:n.493+1G>C
XM_017015321.2:c.493+1G>C XP_016870810.1:n.493+1G>C
XM_017015323.2:c.-269G>C XP_016870812.1:n.-269G>C
XM_024447716.1:c.766+1G>C XP_024303484.1:n.766+1G>C
XM_024447717.1:c.766+1G>C XP_024303485.1:n.766+1G>C
XR_002956828.1:n.781+1G>C
XR_002956829.1:n.781+1G>C
XR_002956830.1:n.552+1G>C
XR_002956831.1:n.227+1G>C
XR_002956832.1:n.553G>C
NM_012203.2:c.493+1G>C MANE Select NP_036335.1:n.493+1G>C