Canonical Allele Identifier: CA863718707
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1446649406
gnomAD v4: 9-37429672-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429672T>C , CM000671.2:g.37429672T>C GRCh38
NC_000009.11:g.37429669T>C , CM000671.1:g.37429669T>C GRCh37
NC_000009.10:g.37419669T>C NCBI36
NG_008135.1:g.11963T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.494-60T>C MANE Select ENSP00000313432.6:n.494-60T>C
ENST00000318158.10:c.494-60T>C ENSP00000313432.6:n.494-60T>C
ENST00000377824.8:n.531-60T>C
ENST00000460882.5:n.521-60T>C
ENST00000480596.5:n.1135T>C
ENST00000491488.5:n.199-60T>C
ENST00000494290.1:c.5T>C ENSP00000432021.1:p.Leu2Pro
ENST00000497693.1:n.1967T>C
ENST00000607784.1:c.494-60T>C ENSP00000475569.1:n.494-60T>C
NM_012203.1:c.494-60T>C NP_036335.1:n.494-60T>C
XM_005251631.1:c.173-60T>C XP_005251688.1:n.173-60T>C
XM_011518073.1:c.92-60T>C XP_011516375.1:n.92-60T>C
XR_929374.1:n.939-60T>C
XM_017015320.2:c.494-60T>C XP_016870809.1:n.494-60T>C
XM_017015321.2:c.494-60T>C XP_016870810.1:n.494-60T>C
XM_017015323.2:c.92-60T>C XP_016870812.1:n.92-60T>C
XM_024447716.1:c.767-60T>C XP_024303484.1:n.767-60T>C
XM_024447717.1:c.767-60T>C XP_024303485.1:n.767-60T>C
XR_002956828.1:n.782-60T>C
XR_002956829.1:n.782-60T>C
XR_002956830.1:n.553-60T>C
XR_002956831.1:n.228-60T>C
XR_002956832.1:n.913-60T>C
NM_012203.2:c.494-60T>C MANE Select NP_036335.1:n.494-60T>C