Canonical Allele Identifier: CA373442173
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425949T>G , CM000671.2:g.37425949T>G GRCh38
NC_000009.11:g.37425946T>G , CM000671.1:g.37425946T>G GRCh37
NC_000009.10:g.37415946T>G NCBI36
NG_008135.1:g.8240T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.242T>G MANE Select ENSP00000313432.6:p.Met81Arg
ENST00000318158.10:c.242T>G ENSP00000313432.6:p.Met81Arg
ENST00000377824.8:n.279T>G
ENST00000460882.5:n.269T>G
ENST00000487399.5:n.251T>G
ENST00000491488.5:n.110-2535T>G
ENST00000493368.5:n.299T>G
ENST00000607784.1:c.242T>G ENSP00000475569.1:p.Met81Arg
NM_012203.1:c.242T>G NP_036335.1:p.Met81Arg
XM_005251631.1:c.84-2535T>G XP_005251688.1:n.84-2535T>G
XM_011518073.1:c.-521T>G XP_011516375.1:n.-521T>G
XR_929374.1:n.327T>G
XM_017015320.2:c.242T>G XP_016870809.1:p.Met81Arg
XM_017015321.2:c.242T>G XP_016870810.1:p.Met81Arg
XM_017015323.2:c.-521T>G XP_016870812.1:n.-521T>G
XM_024447716.1:c.515T>G XP_024303484.1:p.Met172Arg
XM_024447717.1:c.515T>G XP_024303485.1:p.Met172Arg
XR_002956828.1:n.530T>G
XR_002956829.1:n.530T>G
XR_002956830.1:n.301T>G
XR_002956831.1:n.139-2535T>G
XR_002956832.1:n.301T>G
NM_012203.2:c.242T>G MANE Select NP_036335.1:p.Met81Arg