Canonical Allele Identifier: CA373443406
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37429785-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429785A>T , CM000671.2:g.37429785A>T GRCh38
NC_000009.11:g.37429782A>T , CM000671.1:g.37429782A>T GRCh37
NC_000009.10:g.37419782A>T NCBI36
NG_008135.1:g.12076A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.547A>T MANE Select ENSP00000313432.6:p.Thr183Ser
ENST00000318158.10:c.547A>T ENSP00000313432.6:p.Thr183Ser
ENST00000377824.8:n.584A>T
ENST00000460882.5:n.574A>T
ENST00000480596.5:n.1248A>T
ENST00000491488.5:n.252A>T
ENST00000494290.1:c.118A>T ENSP00000432021.1:p.Thr40Ser
ENST00000497693.1:n.2080A>T
ENST00000607784.1:c.547A>T ENSP00000475569.1:p.Thr183Ser
NM_012203.1:c.547A>T NP_036335.1:p.Thr183Ser
XM_005251631.1:c.226A>T XP_005251688.1:p.Thr76Ser
XM_011518073.1:c.145A>T XP_011516375.1:p.Thr49Ser
XR_929374.1:n.992A>T
XM_017015320.2:c.547A>T XP_016870809.1:p.Thr183Ser
XM_017015321.2:c.547A>T XP_016870810.1:p.Thr183Ser
XM_017015323.2:c.145A>T XP_016870812.1:p.Thr49Ser
XM_024447716.1:c.820A>T XP_024303484.1:p.Thr274Ser
XM_024447717.1:c.820A>T XP_024303485.1:p.Thr274Ser
XR_002956828.1:n.835A>T
XR_002956829.1:n.835A>T
XR_002956830.1:n.606A>T
XR_002956831.1:n.281A>T
XR_002956832.1:n.966A>T
NM_012203.2:c.547A>T MANE Select NP_036335.1:p.Thr183Ser