Canonical Allele Identifier: CA373443382
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1359184501
gnomAD v2: 9-37429776-C-A
gnomAD v4: 9-37429779-C-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.541C>A MANE Select ENSP00000313432.6:p.Leu181Met
ENST00000318158.10:c.541C>A ENSP00000313432.6:p.Leu181Met
ENST00000377824.8:n.578C>A
ENST00000460882.5:n.568C>A
ENST00000480596.5:n.1242C>A
ENST00000491488.5:n.246C>A
ENST00000494290.1:c.112C>A ENSP00000432021.1:p.Leu38Met
ENST00000497693.1:n.2074C>A
ENST00000607784.1:c.541C>A ENSP00000475569.1:p.Leu181Met
NM_012203.1:c.541C>A NP_036335.1:p.Leu181Met
XM_005251631.1:c.220C>A XP_005251688.1:p.Leu74Met
XM_011518073.1:c.139C>A XP_011516375.1:p.Leu47Met
XR_929374.1:n.986C>A
XM_017015320.2:c.541C>A XP_016870809.1:p.Leu181Met
XM_017015321.2:c.541C>A XP_016870810.1:p.Leu181Met
XM_017015323.2:c.139C>A XP_016870812.1:p.Leu47Met
XM_024447716.1:c.814C>A XP_024303484.1:p.Leu272Met
XM_024447717.1:c.814C>A XP_024303485.1:p.Leu272Met
XR_002956828.1:n.829C>A
XR_002956829.1:n.829C>A
XR_002956830.1:n.600C>A
XR_002956831.1:n.275C>A
XR_002956832.1:n.960C>A
NM_012203.2:c.541C>A MANE Select NP_036335.1:p.Leu181Met