Canonical Allele Identifier: CA2689954938
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37428677-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428677C>A , CM000671.2:g.37428677C>A GRCh38
NC_000009.11:g.37428674C>A , CM000671.1:g.37428674C>A GRCh37
NC_000009.10:g.37418674C>A NCBI36
NG_008135.1:g.10968C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+105C>A MANE Select ENSP00000313432.6:n.493+105C>A
ENST00000318158.10:c.493+105C>A ENSP00000313432.6:n.493+105C>A
ENST00000377824.8:n.530+105C>A
ENST00000460882.5:n.520+105C>A
ENST00000480596.5:n.140C>A
ENST00000491488.5:n.198+105C>A
ENST00000493368.5:n.655C>A
ENST00000497693.1:n.972C>A
ENST00000607784.1:c.493+105C>A ENSP00000475569.1:n.493+105C>A
NM_012203.1:c.493+105C>A NP_036335.1:n.493+105C>A
XM_005251631.1:c.172+105C>A XP_005251688.1:n.172+105C>A
XM_011518073.1:c.-165C>A XP_011516375.1:n.-165C>A
XR_929374.1:n.683C>A
XM_017015320.2:c.493+105C>A XP_016870809.1:n.493+105C>A
XM_017015321.2:c.493+105C>A XP_016870810.1:n.493+105C>A
XM_017015323.2:c.-165C>A XP_016870812.1:n.-165C>A
XM_024447716.1:c.766+105C>A XP_024303484.1:n.766+105C>A
XM_024447717.1:c.766+105C>A XP_024303485.1:n.766+105C>A
XR_002956828.1:n.781+105C>A
XR_002956829.1:n.781+105C>A
XR_002956830.1:n.552+105C>A
XR_002956831.1:n.227+105C>A
XR_002956832.1:n.657C>A
NM_012203.2:c.493+105C>A MANE Select NP_036335.1:n.493+105C>A