Canonical Allele Identifier: CA587804177
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1272633931
gnomAD v2: 9-37428448-G-A
gnomAD v3: 9-37428451-G-A
gnomAD v4: 9-37428451-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428451G>A , CM000671.2:g.37428451G>A GRCh38
NC_000009.11:g.37428448G>A , CM000671.1:g.37428448G>A GRCh37
NC_000009.10:g.37418448G>A NCBI36
NG_008135.1:g.10742G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.405-33G>A MANE Select ENSP00000313432.6:n.405-33G>A
ENST00000318158.10:c.405-33G>A ENSP00000313432.6:n.405-33G>A
ENST00000377824.8:n.442-33G>A
ENST00000460882.5:n.432-33G>A
ENST00000491488.5:n.110-33G>A
ENST00000493368.5:n.462-33G>A
ENST00000497693.1:n.746G>A
ENST00000607784.1:c.405-33G>A ENSP00000475569.1:n.405-33G>A
NM_012203.1:c.405-33G>A NP_036335.1:n.405-33G>A
XM_005251631.1:c.84-33G>A XP_005251688.1:n.84-33G>A
XM_011518073.1:c.-358-33G>A XP_011516375.1:n.-358-33G>A
XR_929374.1:n.490-33G>A
XM_017015320.2:c.405-33G>A XP_016870809.1:n.405-33G>A
XM_017015321.2:c.405-33G>A XP_016870810.1:n.405-33G>A
XM_017015323.2:c.-358-33G>A XP_016870812.1:n.-358-33G>A
XM_024447716.1:c.678-33G>A XP_024303484.1:n.678-33G>A
XM_024447717.1:c.678-33G>A XP_024303485.1:n.678-33G>A
XR_002956828.1:n.693-33G>A
XR_002956829.1:n.693-33G>A
XR_002956830.1:n.464-33G>A
XR_002956831.1:n.139-33G>A
XR_002956832.1:n.464-33G>A
NM_012203.2:c.405-33G>A MANE Select NP_036335.1:n.405-33G>A