Canonical Allele Identifier: CA587803676
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1466257533
gnomAD v2: 9-37425838-G-A
gnomAD v3: 9-37425841-G-A
gnomAD v4: 9-37425841-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425841G>A , CM000671.2:g.37425841G>A GRCh38
NC_000009.11:g.37425838G>A , CM000671.1:g.37425838G>A GRCh37
NC_000009.10:g.37415838G>A NCBI36
NG_008135.1:g.8132G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.215-81G>A MANE Select ENSP00000313432.6:n.215-81G>A
ENST00000318158.10:c.215-81G>A ENSP00000313432.6:n.215-81G>A
ENST00000377824.8:n.252-81G>A
ENST00000460882.5:n.242-81G>A
ENST00000487399.5:n.224-81G>A
ENST00000491488.5:n.110-2643G>A
ENST00000493368.5:n.272-81G>A
ENST00000607784.1:c.215-81G>A ENSP00000475569.1:n.215-81G>A
NM_012203.1:c.215-81G>A NP_036335.1:n.215-81G>A
XM_005251631.1:c.84-2643G>A XP_005251688.1:n.84-2643G>A
XM_011518073.1:c.-548-81G>A XP_011516375.1:n.-548-81G>A
XR_929374.1:n.300-81G>A
XM_017015320.2:c.215-81G>A XP_016870809.1:n.215-81G>A
XM_017015321.2:c.215-81G>A XP_016870810.1:n.215-81G>A
XM_017015323.2:c.-548-81G>A XP_016870812.1:n.-548-81G>A
XM_024447716.1:c.488-81G>A XP_024303484.1:n.488-81G>A
XM_024447717.1:c.488-81G>A XP_024303485.1:n.488-81G>A
XR_002956828.1:n.503-81G>A
XR_002956829.1:n.503-81G>A
XR_002956830.1:n.274-81G>A
XR_002956831.1:n.139-2643G>A
XR_002956832.1:n.274-81G>A
NM_012203.2:c.215-81G>A MANE Select NP_036335.1:n.215-81G>A