Canonical Allele Identifier: CA465004117
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1823273132
gnomAD v4: 9-37429814-A-G
MyVariant Identifiers: chr9:g.37429811A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429814A>G , CM000671.2:g.37429814A>G GRCh38
NC_000009.11:g.37429811A>G , CM000671.1:g.37429811A>G GRCh37
NC_000009.10:g.37419811A>G NCBI36
NG_008135.1:g.12105A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.576A>G MANE Select ENSP00000313432.6:p.Ala192=
ENST00000318158.10:c.576A>G ENSP00000313432.6:p.Ala192=
ENST00000377824.8:n.613A>G
ENST00000460882.5:n.603A>G
ENST00000480596.5:n.1277A>G
ENST00000482603.1:n.29A>G
ENST00000491488.5:n.281A>G
ENST00000494290.1:c.147A>G ENSP00000432021.1:p.Ala49=
ENST00000497693.1:n.2109A>G
ENST00000607784.1:c.576A>G ENSP00000475569.1:p.Ala192=
NM_012203.1:c.576A>G NP_036335.1:p.Ala192=
XM_005251631.1:c.255A>G XP_005251688.1:p.Ala85=
XM_011518073.1:c.174A>G XP_011516375.1:p.Ala58=
XR_929374.1:n.1021A>G
XM_017015320.2:c.576A>G XP_016870809.1:p.Ala192=
XM_017015321.2:c.576A>G XP_016870810.1:p.Ala192=
XM_017015323.2:c.174A>G XP_016870812.1:p.Ala58=
XM_024447716.1:c.849A>G XP_024303484.1:p.Ala283=
XM_024447717.1:c.849A>G XP_024303485.1:p.Ala283=
XR_002956828.1:n.864A>G
XR_002956829.1:n.864A>G
XR_002956830.1:n.635A>G
XR_002956831.1:n.310A>G
XR_002956832.1:n.995A>G
NM_012203.2:c.576A>G MANE Select NP_036335.1:p.Ala192=