Canonical Allele Identifier: CA373445448
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436741G>A , CM000671.2:g.37436741G>A GRCh38
NC_000009.11:g.37436738G>A , CM000671.1:g.37436738G>A GRCh37
NC_000009.10:g.37426738G>A NCBI36
NG_008135.1:g.19032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.946G>A MANE Select ENSP00000313432.6:p.Gly316Ser
ENST00000318158.10:c.946G>A ENSP00000313432.6:p.Gly316Ser
ENST00000460882.5:n.973G>A
ENST00000480596.5:n.1647G>A
ENST00000494290.1:c.*52-140G>A ENSP00000432021.1:n.*52-140G>A
ENST00000497693.1:n.4514G>A
NM_012203.1:c.946G>A NP_036335.1:p.Gly316Ser
XM_005251631.1:c.625G>A XP_005251688.1:p.Gly209Ser
XM_011518073.1:c.544G>A XP_011516375.1:p.Gly182Ser
XM_017015320.2:c.946-670G>A XP_016870809.1:n.946-670G>A
XM_017015321.2:c.866-670G>A XP_016870810.1:n.866-670G>A
XM_017015323.2:c.544-670G>A XP_016870812.1:n.544-670G>A
XM_024447716.1:c.1219-670G>A XP_024303484.1:n.1219-670G>A
XM_024447717.1:c.1139-670G>A XP_024303485.1:n.1139-670G>A
XR_002956828.1:n.1234-670G>A
XR_002956829.1:n.1154-670G>A
XR_002956830.1:n.2366G>A
XR_002956831.1:n.2041G>A
XR_002956832.1:n.1365G>A
NM_012203.2:c.946G>A MANE Select NP_036335.1:p.Gly316Ser