Canonical Allele Identifier: CA373443496
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429812G>C , CM000671.2:g.37429812G>C GRCh38
NC_000009.11:g.37429809G>C , CM000671.1:g.37429809G>C GRCh37
NC_000009.10:g.37419809G>C NCBI36
NG_008135.1:g.12103G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.574G>C MANE Select ENSP00000313432.6:p.Ala192Pro
ENST00000318158.10:c.574G>C ENSP00000313432.6:p.Ala192Pro
ENST00000377824.8:n.611G>C
ENST00000460882.5:n.601G>C
ENST00000480596.5:n.1275G>C
ENST00000482603.1:n.27G>C
ENST00000491488.5:n.279G>C
ENST00000494290.1:c.145G>C ENSP00000432021.1:p.Ala49Pro
ENST00000497693.1:n.2107G>C
ENST00000607784.1:c.574G>C ENSP00000475569.1:p.Ala192Pro
NM_012203.1:c.574G>C NP_036335.1:p.Ala192Pro
XM_005251631.1:c.253G>C XP_005251688.1:p.Ala85Pro
XM_011518073.1:c.172G>C XP_011516375.1:p.Ala58Pro
XR_929374.1:n.1019G>C
XM_017015320.2:c.574G>C XP_016870809.1:p.Ala192Pro
XM_017015321.2:c.574G>C XP_016870810.1:p.Ala192Pro
XM_017015323.2:c.172G>C XP_016870812.1:p.Ala58Pro
XM_024447716.1:c.847G>C XP_024303484.1:p.Ala283Pro
XM_024447717.1:c.847G>C XP_024303485.1:p.Ala283Pro
XR_002956828.1:n.862G>C
XR_002956829.1:n.862G>C
XR_002956830.1:n.633G>C
XR_002956831.1:n.308G>C
XR_002956832.1:n.993G>C
NM_012203.2:c.574G>C MANE Select NP_036335.1:p.Ala192Pro