Canonical Allele Identifier: CA5059121
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs779954374
gnomAD v2: 9-37429680-C-T
gnomAD v4: 9-37429683-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429683C>T , CM000671.2:g.37429683C>T GRCh38
NC_000009.11:g.37429680C>T , CM000671.1:g.37429680C>T GRCh37
NC_000009.10:g.37419680C>T NCBI36
NG_008135.1:g.11974C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.494-49C>T MANE Select ENSP00000313432.6:n.494-49C>T
ENST00000318158.10:c.494-49C>T ENSP00000313432.6:n.494-49C>T
ENST00000377824.8:n.531-49C>T
ENST00000460882.5:n.521-49C>T
ENST00000480596.5:n.1146C>T
ENST00000491488.5:n.199-49C>T
ENST00000494290.1:c.16C>T ENSP00000432021.1:p.Pro6Ser
ENST00000497693.1:n.1978C>T
ENST00000607784.1:c.494-49C>T ENSP00000475569.1:n.494-49C>T
NM_012203.1:c.494-49C>T NP_036335.1:n.494-49C>T
XM_005251631.1:c.173-49C>T XP_005251688.1:n.173-49C>T
XM_011518073.1:c.92-49C>T XP_011516375.1:n.92-49C>T
XR_929374.1:n.939-49C>T
XM_017015320.2:c.494-49C>T XP_016870809.1:n.494-49C>T
XM_017015321.2:c.494-49C>T XP_016870810.1:n.494-49C>T
XM_017015323.2:c.92-49C>T XP_016870812.1:n.92-49C>T
XM_024447716.1:c.767-49C>T XP_024303484.1:n.767-49C>T
XM_024447717.1:c.767-49C>T XP_024303485.1:n.767-49C>T
XR_002956828.1:n.782-49C>T
XR_002956829.1:n.782-49C>T
XR_002956830.1:n.553-49C>T
XR_002956831.1:n.228-49C>T
XR_002956832.1:n.913-49C>T
NM_012203.2:c.494-49C>T MANE Select NP_036335.1:n.494-49C>T