Canonical Allele Identifier: CA373442751
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1327505788
gnomAD v2: 9-37428518-G-A
gnomAD v4: 9-37428521-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428521G>A , CM000671.2:g.37428521G>A GRCh38
NC_000009.11:g.37428518G>A , CM000671.1:g.37428518G>A GRCh37
NC_000009.10:g.37418518G>A NCBI36
NG_008135.1:g.10812G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.442G>A MANE Select ENSP00000313432.6:p.Gly148Ser
ENST00000318158.10:c.442G>A ENSP00000313432.6:p.Gly148Ser
ENST00000377824.8:n.479G>A
ENST00000460882.5:n.469G>A
ENST00000491488.5:n.147G>A
ENST00000493368.5:n.499G>A
ENST00000497693.1:n.816G>A
ENST00000607784.1:c.442G>A ENSP00000475569.1:p.Gly148Ser
NM_012203.1:c.442G>A NP_036335.1:p.Gly148Ser
XM_005251631.1:c.121G>A XP_005251688.1:p.Gly41Ser
XM_011518073.1:c.-321G>A XP_011516375.1:n.-321G>A
XR_929374.1:n.527G>A
XM_017015320.2:c.442G>A XP_016870809.1:p.Gly148Ser
XM_017015321.2:c.442G>A XP_016870810.1:p.Gly148Ser
XM_017015323.2:c.-321G>A XP_016870812.1:n.-321G>A
XM_024447716.1:c.715G>A XP_024303484.1:p.Gly239Ser
XM_024447717.1:c.715G>A XP_024303485.1:p.Gly239Ser
XR_002956828.1:n.730G>A
XR_002956829.1:n.730G>A
XR_002956830.1:n.501G>A
XR_002956831.1:n.176G>A
XR_002956832.1:n.501G>A
NM_012203.2:c.442G>A MANE Select NP_036335.1:p.Gly148Ser