Canonical Allele Identifier: CA373443342
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429768T>C , CM000671.2:g.37429768T>C GRCh38
NC_000009.11:g.37429765T>C , CM000671.1:g.37429765T>C GRCh37
NC_000009.10:g.37419765T>C NCBI36
NG_008135.1:g.12059T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.530T>C MANE Select ENSP00000313432.6:p.Val177Ala
ENST00000318158.10:c.530T>C ENSP00000313432.6:p.Val177Ala
ENST00000377824.8:n.567T>C
ENST00000460882.5:n.557T>C
ENST00000480596.5:n.1231T>C
ENST00000491488.5:n.235T>C
ENST00000494290.1:c.101T>C ENSP00000432021.1:p.Val34Ala
ENST00000497693.1:n.2063T>C
ENST00000607784.1:c.530T>C ENSP00000475569.1:p.Val177Ala
NM_012203.1:c.530T>C NP_036335.1:p.Val177Ala
XM_005251631.1:c.209T>C XP_005251688.1:p.Val70Ala
XM_011518073.1:c.128T>C XP_011516375.1:p.Val43Ala
XR_929374.1:n.975T>C
XM_017015320.2:c.530T>C XP_016870809.1:p.Val177Ala
XM_017015321.2:c.530T>C XP_016870810.1:p.Val177Ala
XM_017015323.2:c.128T>C XP_016870812.1:p.Val43Ala
XM_024447716.1:c.803T>C XP_024303484.1:p.Val268Ala
XM_024447717.1:c.803T>C XP_024303485.1:p.Val268Ala
XR_002956828.1:n.818T>C
XR_002956829.1:n.818T>C
XR_002956830.1:n.589T>C
XR_002956831.1:n.264T>C
XR_002956832.1:n.949T>C
NM_012203.2:c.530T>C MANE Select NP_036335.1:p.Val177Ala