Canonical Allele Identifier: CA373445566
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436775A>T , CM000671.2:g.37436775A>T GRCh38
NC_000009.11:g.37436772A>T , CM000671.1:g.37436772A>T GRCh37
NC_000009.10:g.37426772A>T NCBI36
NG_008135.1:g.19066A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.980A>T MANE Select ENSP00000313432.6:p.Lys327Met
ENST00000318158.10:c.980A>T ENSP00000313432.6:p.Lys327Met
ENST00000460882.5:n.1007A>T
ENST00000480596.5:n.1681A>T
ENST00000494290.1:c.*52-106A>T ENSP00000432021.1:n.*52-106A>T
ENST00000497693.1:n.4548A>T
NM_012203.1:c.980A>T NP_036335.1:p.Lys327Met
XM_005251631.1:c.659A>T XP_005251688.1:p.Lys220Met
XM_011518073.1:c.578A>T XP_011516375.1:p.Lys193Met
XM_017015320.2:c.946-636A>T XP_016870809.1:n.946-636A>T
XM_017015321.2:c.866-636A>T XP_016870810.1:n.866-636A>T
XM_017015323.2:c.544-636A>T XP_016870812.1:n.544-636A>T
XM_024447716.1:c.1219-636A>T XP_024303484.1:n.1219-636A>T
XM_024447717.1:c.1139-636A>T XP_024303485.1:n.1139-636A>T
XR_002956828.1:n.1234-636A>T
XR_002956829.1:n.1154-636A>T
XR_002956830.1:n.2400A>T
XR_002956831.1:n.2075A>T
XR_002956832.1:n.1399A>T
NM_012203.2:c.980A>T MANE Select NP_036335.1:p.Lys327Met