Canonical Allele Identifier: CA465004289
Gene: GRHPR HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.37432017A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432020A>T , CM000671.2:g.37432020A>T GRCh38
NC_000009.11:g.37432017A>T , CM000671.1:g.37432017A>T GRCh37
NC_000009.10:g.37422017A>T NCBI36
NG_008135.1:g.14311A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.747A>T MANE Select ENSP00000313432.6:p.Val249=
ENST00000318158.10:c.747A>T ENSP00000313432.6:p.Val249=
ENST00000460882.5:n.774A>T
ENST00000480596.5:n.1448A>T
ENST00000482603.1:n.200A>T
ENST00000491488.5:n.452A>T
ENST00000494290.1:c.*51+869A>T ENSP00000432021.1:n.*51+869A>T
ENST00000497693.1:n.4315A>T
ENST00000607784.1:c.747A>T ENSP00000475569.1:p.Val249=
NM_012203.1:c.747A>T NP_036335.1:p.Val249=
XM_005251631.1:c.426A>T XP_005251688.1:p.Val142=
XM_011518073.1:c.345A>T XP_011516375.1:p.Val115=
XM_017015320.2:c.747A>T XP_016870809.1:p.Val249=
XM_017015321.2:c.747A>T XP_016870810.1:p.Val249=
XM_017015323.2:c.345A>T XP_016870812.1:p.Val115=
XM_024447716.1:c.1020A>T XP_024303484.1:p.Val340=
XM_024447717.1:c.1020A>T XP_024303485.1:p.Val340=
XR_002956828.1:n.1035A>T
XR_002956829.1:n.1035A>T
XR_002956830.1:n.2167A>T
XR_002956831.1:n.1842A>T
XR_002956832.1:n.1166A>T
NM_012203.2:c.747A>T MANE Select NP_036335.1:p.Val249=