Canonical Allele Identifier: CA373443384
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429779C>G , CM000671.2:g.37429779C>G GRCh38
NC_000009.11:g.37429776C>G , CM000671.1:g.37429776C>G GRCh37
NC_000009.10:g.37419776C>G NCBI36
NG_008135.1:g.12070C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.541C>G MANE Select ENSP00000313432.6:p.Leu181Val
ENST00000318158.10:c.541C>G ENSP00000313432.6:p.Leu181Val
ENST00000377824.8:n.578C>G
ENST00000460882.5:n.568C>G
ENST00000480596.5:n.1242C>G
ENST00000491488.5:n.246C>G
ENST00000494290.1:c.112C>G ENSP00000432021.1:p.Leu38Val
ENST00000497693.1:n.2074C>G
ENST00000607784.1:c.541C>G ENSP00000475569.1:p.Leu181Val
NM_012203.1:c.541C>G NP_036335.1:p.Leu181Val
XM_005251631.1:c.220C>G XP_005251688.1:p.Leu74Val
XM_011518073.1:c.139C>G XP_011516375.1:p.Leu47Val
XR_929374.1:n.986C>G
XM_017015320.2:c.541C>G XP_016870809.1:p.Leu181Val
XM_017015321.2:c.541C>G XP_016870810.1:p.Leu181Val
XM_017015323.2:c.139C>G XP_016870812.1:p.Leu47Val
XM_024447716.1:c.814C>G XP_024303484.1:p.Leu272Val
XM_024447717.1:c.814C>G XP_024303485.1:p.Leu272Val
XR_002956828.1:n.829C>G
XR_002956829.1:n.829C>G
XR_002956830.1:n.600C>G
XR_002956831.1:n.275C>G
XR_002956832.1:n.960C>G
NM_012203.2:c.541C>G MANE Select NP_036335.1:p.Leu181Val