Canonical Allele Identifier: CA2783586086
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428755G>A , CM000671.2:g.37428755G>A GRCh38
NC_000009.11:g.37428752G>A , CM000671.1:g.37428752G>A GRCh37
NC_000009.10:g.37418752G>A NCBI36
NG_008135.1:g.11046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.493+183G>A MANE Select ENSP00000313432.6:n.493+183G>A
ENST00000318158.10:c.493+183G>A ENSP00000313432.6:n.493+183G>A
ENST00000377824.8:n.530+183G>A
ENST00000460882.5:n.520+183G>A
ENST00000480596.5:n.218G>A
ENST00000491488.5:n.198+183G>A
ENST00000493368.5:n.733G>A
ENST00000497693.1:n.1050G>A
ENST00000607784.1:c.493+183G>A ENSP00000475569.1:n.493+183G>A
NM_012203.1:c.493+183G>A NP_036335.1:n.493+183G>A
XM_005251631.1:c.172+183G>A XP_005251688.1:n.172+183G>A
XM_011518073.1:c.-87G>A XP_011516375.1:n.-87G>A
XR_929374.1:n.761G>A
XM_017015320.2:c.493+183G>A XP_016870809.1:n.493+183G>A
XM_017015321.2:c.493+183G>A XP_016870810.1:n.493+183G>A
XM_017015323.2:c.-87G>A XP_016870812.1:n.-87G>A
XM_024447716.1:c.766+183G>A XP_024303484.1:n.766+183G>A
XM_024447717.1:c.766+183G>A XP_024303485.1:n.766+183G>A
XR_002956828.1:n.781+183G>A
XR_002956829.1:n.781+183G>A
XR_002956830.1:n.552+183G>A
XR_002956831.1:n.227+183G>A
XR_002956832.1:n.735G>A
NM_012203.2:c.493+183G>A MANE Select NP_036335.1:n.493+183G>A