Canonical Allele Identifier: CA373441159
Community Standard Title: NM_012203.2(GRHPR):c.2T>G (p.Met1Arg)
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37422752T>G , CM000671.2:g.37422752T>G GRCh38
NC_000009.11:g.37422749T>G , CM000671.1:g.37422749T>G GRCh37
NC_000009.10:g.37412749T>G NCBI36
NG_008135.1:g.5043T>G

Transcript Alleles

HGVS Amino-acid Change
NM_012203.2:c.2T>G MANE Select NP_036335.1:p.Met1Arg
ENST00000318158.11:c.2T>G MANE Select ENSP00000313432.6:p.Met1Arg
NM_012203.1:c.2T>G NP_036335.1:p.Met1Arg
ENST00000318158.10:c.2T>G ENSP00000313432.6:p.Met1Arg
ENST00000377824.8:n.39T>G
ENST00000460882.5:n.57T>G
ENST00000487399.5:n.39T>G
ENST00000491488.5:n.28T>G
ENST00000493368.5:n.87T>G
ENST00000607784.1:c.2T>G ENSP00000475569.1:p.Met1Arg
XM_005251631.1:c.2T>G XP_005251688.1:p.Met1Arg
XM_011518073.1:c.-761T>G XP_011516375.1:n.-761T>G
XM_017015320.2:c.2T>G XP_016870809.1:p.Met1Arg
XM_017015321.2:c.2T>G XP_016870810.1:p.Met1Arg
XM_017015323.2:c.-761T>G XP_016870812.1:n.-761T>G
XM_024447716.1:c.303T>G XP_024303484.1:p.Asp101Glu
XM_024447717.1:c.303T>G XP_024303485.1:p.Asp101Glu
XR_002956828.1:n.318T>G
XR_002956829.1:n.318T>G
XR_002956830.1:n.61T>G
XR_002956831.1:n.57T>G
XR_002956832.1:n.61T>G
XR_929374.1:n.87T>G