Canonical Allele Identifier: CA373442435
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426549T>G , CM000671.2:g.37426549T>G GRCh38
NC_000009.11:g.37426546T>G , CM000671.1:g.37426546T>G GRCh37
NC_000009.10:g.37416546T>G NCBI36
NG_008135.1:g.8840T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.299T>G MANE Select ENSP00000313432.6:p.Val100Gly
ENST00000318158.10:c.299T>G ENSP00000313432.6:p.Val100Gly
ENST00000377824.8:n.336T>G
ENST00000460882.5:n.326T>G
ENST00000487399.5:n.851T>G
ENST00000491488.5:n.110-1935T>G
ENST00000493368.5:n.356T>G
ENST00000607784.1:c.299T>G ENSP00000475569.1:p.Val100Gly
NM_012203.1:c.299T>G NP_036335.1:p.Val100Gly
XM_005251631.1:c.84-1935T>G XP_005251688.1:n.84-1935T>G
XM_011518073.1:c.-464T>G XP_011516375.1:n.-464T>G
XR_929374.1:n.384T>G
XM_017015320.2:c.299T>G XP_016870809.1:p.Val100Gly
XM_017015321.2:c.299T>G XP_016870810.1:p.Val100Gly
XM_017015323.2:c.-464T>G XP_016870812.1:n.-464T>G
XM_024447716.1:c.572T>G XP_024303484.1:p.Val191Gly
XM_024447717.1:c.572T>G XP_024303485.1:p.Val191Gly
XR_002956828.1:n.587T>G
XR_002956829.1:n.587T>G
XR_002956830.1:n.358T>G
XR_002956831.1:n.139-1935T>G
XR_002956832.1:n.358T>G
NM_012203.2:c.299T>G MANE Select NP_036335.1:p.Val100Gly