Canonical Allele Identifier: CA192890308
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs554336207
gnomAD v2: 9-37429553-G-A
gnomAD v3: 9-37429556-G-A
gnomAD v4: 9-37429556-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429556G>A , CM000671.2:g.37429556G>A GRCh38
NC_000009.11:g.37429553G>A , CM000671.1:g.37429553G>A GRCh37
NC_000009.10:g.37419553G>A NCBI36
NG_008135.1:g.11847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.494-176G>A MANE Select ENSP00000313432.6:n.494-176G>A
ENST00000318158.10:c.494-176G>A ENSP00000313432.6:n.494-176G>A
ENST00000377824.8:n.531-176G>A
ENST00000460882.5:n.521-176G>A
ENST00000480596.5:n.1019G>A
ENST00000491488.5:n.199-176G>A
ENST00000494290.1:c.-112G>A ENSP00000432021.1:n.-112G>A
ENST00000497693.1:n.1851G>A
ENST00000607784.1:c.494-176G>A ENSP00000475569.1:n.494-176G>A
NM_012203.1:c.494-176G>A NP_036335.1:n.494-176G>A
XM_005251631.1:c.173-176G>A XP_005251688.1:n.173-176G>A
XM_011518073.1:c.92-176G>A XP_011516375.1:n.92-176G>A
XR_929374.1:n.939-176G>A
XM_017015320.2:c.494-176G>A XP_016870809.1:n.494-176G>A
XM_017015321.2:c.494-176G>A XP_016870810.1:n.494-176G>A
XM_017015323.2:c.92-176G>A XP_016870812.1:n.92-176G>A
XM_024447716.1:c.767-176G>A XP_024303484.1:n.767-176G>A
XM_024447717.1:c.767-176G>A XP_024303485.1:n.767-176G>A
XR_002956828.1:n.782-176G>A
XR_002956829.1:n.782-176G>A
XR_002956830.1:n.553-176G>A
XR_002956831.1:n.228-176G>A
XR_002956832.1:n.913-176G>A
NM_012203.2:c.494-176G>A MANE Select NP_036335.1:n.494-176G>A