Canonical Allele Identifier: CA2689982811
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37432176-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432176C>G , CM000671.2:g.37432176C>G GRCh38
NC_000009.11:g.37432173C>G , CM000671.1:g.37432173C>G GRCh37
NC_000009.10:g.37422173C>G NCBI36
NG_008135.1:g.14467C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.865+38C>G MANE Select ENSP00000313432.6:n.865+38C>G
ENST00000318158.10:c.865+38C>G ENSP00000313432.6:n.865+38C>G
ENST00000460882.5:n.892+38C>G
ENST00000480596.5:n.1566+38C>G
ENST00000482603.1:n.318+38C>G
ENST00000491488.5:n.570+38C>G
ENST00000494290.1:c.*51+1025C>G ENSP00000432021.1:n.*51+1025C>G
ENST00000497693.1:n.4433+38C>G
ENST00000512404.2:n.90C>G
ENST00000607784.1:c.865+38C>G ENSP00000475569.1:n.865+38C>G
NM_012203.1:c.865+38C>G NP_036335.1:n.865+38C>G
XM_005251631.1:c.544+38C>G XP_005251688.1:n.544+38C>G
XM_011518073.1:c.463+38C>G XP_011516375.1:n.463+38C>G
XM_017015320.2:c.865+38C>G XP_016870809.1:n.865+38C>G
XM_017015321.2:c.865+38C>G XP_016870810.1:n.865+38C>G
XM_017015323.2:c.463+38C>G XP_016870812.1:n.463+38C>G
XM_024447716.1:c.1138+38C>G XP_024303484.1:n.1138+38C>G
XM_024447717.1:c.1138+38C>G XP_024303485.1:n.1138+38C>G
XR_002956828.1:n.1153+38C>G
XR_002956829.1:n.1153+38C>G
XR_002956830.1:n.2285+38C>G
XR_002956831.1:n.1960+38C>G
XR_002956832.1:n.1284+38C>G
NM_012203.2:c.865+38C>G MANE Select NP_036335.1:n.865+38C>G