Canonical Allele Identifier: CA373445568
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436776G>C , CM000671.2:g.37436776G>C GRCh38
NC_000009.11:g.37436773G>C , CM000671.1:g.37436773G>C GRCh37
NC_000009.10:g.37426773G>C NCBI36
NG_008135.1:g.19067G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.981G>C MANE Select ENSP00000313432.6:p.Lys327Asn
ENST00000318158.10:c.981G>C ENSP00000313432.6:p.Lys327Asn
ENST00000460882.5:n.1008G>C
ENST00000480596.5:n.1682G>C
ENST00000494290.1:c.*52-105G>C ENSP00000432021.1:n.*52-105G>C
ENST00000497693.1:n.4549G>C
NM_012203.1:c.981G>C NP_036335.1:p.Lys327Asn
XM_005251631.1:c.660G>C XP_005251688.1:p.Lys220Asn
XM_011518073.1:c.579G>C XP_011516375.1:p.Lys193Asn
XM_017015320.2:c.946-635G>C XP_016870809.1:n.946-635G>C
XM_017015321.2:c.866-635G>C XP_016870810.1:n.866-635G>C
XM_017015323.2:c.544-635G>C XP_016870812.1:n.544-635G>C
XM_024447716.1:c.1219-635G>C XP_024303484.1:n.1219-635G>C
XM_024447717.1:c.1139-635G>C XP_024303485.1:n.1139-635G>C
XR_002956828.1:n.1234-635G>C
XR_002956829.1:n.1154-635G>C
XR_002956830.1:n.2401G>C
XR_002956831.1:n.2076G>C
XR_002956832.1:n.1400G>C
NM_012203.2:c.981G>C MANE Select NP_036335.1:p.Lys327Asn