Canonical Allele Identifier: CA373443335
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.529G>T MANE Select ENSP00000313432.6:p.Val177Phe
ENST00000318158.10:c.529G>T ENSP00000313432.6:p.Val177Phe
ENST00000377824.8:n.566G>T
ENST00000460882.5:n.556G>T
ENST00000480596.5:n.1230G>T
ENST00000491488.5:n.234G>T
ENST00000494290.1:c.100G>T ENSP00000432021.1:p.Val34Phe
ENST00000497693.1:n.2062G>T
ENST00000607784.1:c.529G>T ENSP00000475569.1:p.Val177Phe
NM_012203.1:c.529G>T NP_036335.1:p.Val177Phe
XM_005251631.1:c.208G>T XP_005251688.1:p.Val70Phe
XM_011518073.1:c.127G>T XP_011516375.1:p.Val43Phe
XR_929374.1:n.974G>T
XM_017015320.2:c.529G>T XP_016870809.1:p.Val177Phe
XM_017015321.2:c.529G>T XP_016870810.1:p.Val177Phe
XM_017015323.2:c.127G>T XP_016870812.1:p.Val43Phe
XM_024447716.1:c.802G>T XP_024303484.1:p.Val268Phe
XM_024447717.1:c.802G>T XP_024303485.1:p.Val268Phe
XR_002956828.1:n.817G>T
XR_002956829.1:n.817G>T
XR_002956830.1:n.588G>T
XR_002956831.1:n.263G>T
XR_002956832.1:n.948G>T
NM_012203.2:c.529G>T MANE Select NP_036335.1:p.Val177Phe