Canonical Allele Identifier: CA373445507
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436760T>A , CM000671.2:g.37436760T>A GRCh38
NC_000009.11:g.37436757T>A , CM000671.1:g.37436757T>A GRCh37
NC_000009.10:g.37426757T>A NCBI36
NG_008135.1:g.19051T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.965T>A MANE Select ENSP00000313432.6:p.Met322Lys
ENST00000318158.10:c.965T>A ENSP00000313432.6:p.Met322Lys
ENST00000460882.5:n.992T>A
ENST00000480596.5:n.1666T>A
ENST00000494290.1:c.*52-121T>A ENSP00000432021.1:n.*52-121T>A
ENST00000497693.1:n.4533T>A
NM_012203.1:c.965T>A NP_036335.1:p.Met322Lys
XM_005251631.1:c.644T>A XP_005251688.1:p.Met215Lys
XM_011518073.1:c.563T>A XP_011516375.1:p.Met188Lys
XM_017015320.2:c.946-651T>A XP_016870809.1:n.946-651T>A
XM_017015321.2:c.866-651T>A XP_016870810.1:n.866-651T>A
XM_017015323.2:c.544-651T>A XP_016870812.1:n.544-651T>A
XM_024447716.1:c.1219-651T>A XP_024303484.1:n.1219-651T>A
XM_024447717.1:c.1139-651T>A XP_024303485.1:n.1139-651T>A
XR_002956828.1:n.1234-651T>A
XR_002956829.1:n.1154-651T>A
XR_002956830.1:n.2385T>A
XR_002956831.1:n.2060T>A
XR_002956832.1:n.1384T>A
NM_012203.2:c.965T>A MANE Select NP_036335.1:p.Met322Lys