Canonical Allele Identifier: CA373443483
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429808G>T , CM000671.2:g.37429808G>T GRCh38
NC_000009.11:g.37429805G>T , CM000671.1:g.37429805G>T GRCh37
NC_000009.10:g.37419805G>T NCBI36
NG_008135.1:g.12099G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.570G>T MANE Select ENSP00000313432.6:p.Glu190Asp
ENST00000318158.10:c.570G>T ENSP00000313432.6:p.Glu190Asp
ENST00000377824.8:n.607G>T
ENST00000460882.5:n.597G>T
ENST00000480596.5:n.1271G>T
ENST00000482603.1:n.23G>T
ENST00000491488.5:n.275G>T
ENST00000494290.1:c.141G>T ENSP00000432021.1:p.Glu47Asp
ENST00000497693.1:n.2103G>T
ENST00000607784.1:c.570G>T ENSP00000475569.1:p.Glu190Asp
NM_012203.1:c.570G>T NP_036335.1:p.Glu190Asp
XM_005251631.1:c.249G>T XP_005251688.1:p.Glu83Asp
XM_011518073.1:c.168G>T XP_011516375.1:p.Glu56Asp
XR_929374.1:n.1015G>T
XM_017015320.2:c.570G>T XP_016870809.1:p.Glu190Asp
XM_017015321.2:c.570G>T XP_016870810.1:p.Glu190Asp
XM_017015323.2:c.168G>T XP_016870812.1:p.Glu56Asp
XM_024447716.1:c.843G>T XP_024303484.1:p.Glu281Asp
XM_024447717.1:c.843G>T XP_024303485.1:p.Glu281Asp
XR_002956828.1:n.858G>T
XR_002956829.1:n.858G>T
XR_002956830.1:n.629G>T
XR_002956831.1:n.304G>T
XR_002956832.1:n.989G>T
NM_012203.2:c.570G>T MANE Select NP_036335.1:p.Glu190Asp