Canonical Allele Identifier: CA373443334
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429767G>A , CM000671.2:g.37429767G>A GRCh38
NC_000009.11:g.37429764G>A , CM000671.1:g.37429764G>A GRCh37
NC_000009.10:g.37419764G>A NCBI36
NG_008135.1:g.12058G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.529G>A MANE Select ENSP00000313432.6:p.Val177Ile
ENST00000318158.10:c.529G>A ENSP00000313432.6:p.Val177Ile
ENST00000377824.8:n.566G>A
ENST00000460882.5:n.556G>A
ENST00000480596.5:n.1230G>A
ENST00000491488.5:n.234G>A
ENST00000494290.1:c.100G>A ENSP00000432021.1:p.Val34Ile
ENST00000497693.1:n.2062G>A
ENST00000607784.1:c.529G>A ENSP00000475569.1:p.Val177Ile
NM_012203.1:c.529G>A NP_036335.1:p.Val177Ile
XM_005251631.1:c.208G>A XP_005251688.1:p.Val70Ile
XM_011518073.1:c.127G>A XP_011516375.1:p.Val43Ile
XR_929374.1:n.974G>A
XM_017015320.2:c.529G>A XP_016870809.1:p.Val177Ile
XM_017015321.2:c.529G>A XP_016870810.1:p.Val177Ile
XM_017015323.2:c.127G>A XP_016870812.1:p.Val43Ile
XM_024447716.1:c.802G>A XP_024303484.1:p.Val268Ile
XM_024447717.1:c.802G>A XP_024303485.1:p.Val268Ile
XR_002956828.1:n.817G>A
XR_002956829.1:n.817G>A
XR_002956830.1:n.588G>A
XR_002956831.1:n.263G>A
XR_002956832.1:n.948G>A
NM_012203.2:c.529G>A MANE Select NP_036335.1:p.Val177Ile