Canonical Allele Identifier: CA373442490
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37426567-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426567T>A , CM000671.2:g.37426567T>A GRCh38
NC_000009.11:g.37426564T>A , CM000671.1:g.37426564T>A GRCh37
NC_000009.10:g.37416564T>A NCBI36
NG_008135.1:g.8858T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.317T>A MANE Select ENSP00000313432.6:p.Val106Asp
ENST00000318158.10:c.317T>A ENSP00000313432.6:p.Val106Asp
ENST00000377824.8:n.354T>A
ENST00000460882.5:n.344T>A
ENST00000487399.5:n.869T>A
ENST00000491488.5:n.110-1917T>A
ENST00000493368.5:n.374T>A
ENST00000607784.1:c.317T>A ENSP00000475569.1:p.Val106Asp
NM_012203.1:c.317T>A NP_036335.1:p.Val106Asp
XM_005251631.1:c.84-1917T>A XP_005251688.1:n.84-1917T>A
XM_011518073.1:c.-446T>A XP_011516375.1:n.-446T>A
XR_929374.1:n.402T>A
XM_017015320.2:c.317T>A XP_016870809.1:p.Val106Asp
XM_017015321.2:c.317T>A XP_016870810.1:p.Val106Asp
XM_017015323.2:c.-446T>A XP_016870812.1:n.-446T>A
XM_024447716.1:c.590T>A XP_024303484.1:p.Val197Asp
XM_024447717.1:c.590T>A XP_024303485.1:p.Val197Asp
XR_002956828.1:n.605T>A
XR_002956829.1:n.605T>A
XR_002956830.1:n.376T>A
XR_002956831.1:n.139-1917T>A
XR_002956832.1:n.376T>A
NM_012203.2:c.317T>A MANE Select NP_036335.1:p.Val106Asp