Canonical Allele Identifier: CA373443644
Community Standard Title: NM_012203.2(GRHPR):c.599-1G>C
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37430510G>C , CM000671.2:g.37430510G>C GRCh38
NC_000009.11:g.37430507G>C , CM000671.1:g.37430507G>C GRCh37
NC_000009.10:g.37420507G>C NCBI36
NG_008135.1:g.12801G>C

Transcript Alleles

HGVS Amino-acid Change
NM_012203.2:c.599-1G>C MANE Select NP_036335.1:n.599-1G>C
ENST00000318158.11:c.599-1G>C MANE Select ENSP00000313432.6:n.599-1G>C
NM_012203.1:c.599-1G>C NP_036335.1:n.599-1G>C
ENST00000318158.10:c.599-1G>C ENSP00000313432.6:n.599-1G>C
ENST00000377824.8:n.636-1G>C
ENST00000460882.5:n.626-1G>C
ENST00000480596.5:n.1300-1G>C
ENST00000482603.1:n.52-1G>C
ENST00000491488.5:n.304-1G>C
ENST00000494290.1:c.170-1G>C ENSP00000432021.1:n.170-1G>C
ENST00000497693.1:n.2805G>C
ENST00000607784.1:c.599-1G>C ENSP00000475569.1:n.599-1G>C
XM_005251631.1:c.278-1G>C XP_005251688.1:n.278-1G>C
XM_011518073.1:c.197-1G>C XP_011516375.1:n.197-1G>C
XM_017015320.2:c.599-1G>C XP_016870809.1:n.599-1G>C
XM_017015321.2:c.599-1G>C XP_016870810.1:n.599-1G>C
XM_017015323.2:c.197-1G>C XP_016870812.1:n.197-1G>C
XM_024447716.1:c.872-1G>C XP_024303484.1:n.872-1G>C
XM_024447717.1:c.872-1G>C XP_024303485.1:n.872-1G>C
XR_002956828.1:n.887-1G>C
XR_002956829.1:n.887-1G>C
XR_002956830.1:n.658-1G>C
XR_002956831.1:n.333-1G>C
XR_002956832.1:n.1018-1G>C
XR_929374.1:n.1044-1G>C