Canonical Allele Identifier: CA16041324
Gene: GRHPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371598
ClinVar RCV Id: RCV000410412
dbSNP Id: rs1057517398

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424977T>G , CM000671.2:g.37424977T>G GRCh38
NC_000009.11:g.37424974T>G , CM000671.1:g.37424974T>G GRCh37
NC_000009.10:g.37414974T>G NCBI36
NG_008135.1:g.7268T>G

Transcript Alleles

HGVS Amino-acid change
NM_012203.1:c.214+2T>G VV NP_036335.1:p.=
XM_005251631.1:c.83+2144T>G XP_005251688.1:p.=
XM_011518073.1:c.-549+2T>G XP_011516375.1:p.=
XR_929374.1:n.299+2T>G
XM_017015320.2:c.214+2T>G XP_016870809.1:p.=
XM_017015321.2:c.214+2T>G XP_016870810.1:p.=
XM_017015323.2:c.-549+2T>G XP_016870812.1:p.=
XM_024447716.1:c.487+2T>G XP_024303484.1:p.=
XM_024447717.1:c.487+2T>G XP_024303485.1:p.=
XR_002956828.1:n.502+2T>G
XR_002956829.1:n.502+2T>G
XR_002956830.1:n.273+2T>G
XR_002956831.1:n.138+2144T>G
XR_002956832.1:n.273+2T>G
NM_012203.2:c.214+2T>G VV MANE Preferred NP_036335.1:p.=
ENST00000318158.10:c.214+2T>G ENSP00000313432.6:p.=
ENST00000377824.8:n.251+2T>G
ENST00000460882.5:n.241+2T>G
ENST00000487399.5:n.223+2T>G
ENST00000491488.5:n.109+2144T>G
ENST00000493368.5:n.271+2T>G
ENST00000607784.1:c.214+2T>G ENSP00000475569.1:p.=