Canonical Allele Identifier: CA373442857
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs180177313

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428574T>G , CM000671.2:g.37428574T>G GRCh38
NC_000009.11:g.37428571T>G , CM000671.1:g.37428571T>G GRCh37
NC_000009.10:g.37418571T>G NCBI36
NG_008135.1:g.10865T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.493+2T>G MANE Select ENSP00000313432.6:n.493+2T>G
ENST00000318158.10:c.493+2T>G ENSP00000313432.6:n.493+2T>G
ENST00000377824.8:n.530+2T>G
ENST00000460882.5:n.520+2T>G
ENST00000480596.5:n.37T>G
ENST00000491488.5:n.198+2T>G
ENST00000493368.5:n.552T>G
ENST00000497693.1:n.869T>G
ENST00000607784.1:c.493+2T>G ENSP00000475569.1:n.493+2T>G
NM_012203.1:c.493+2T>G NP_036335.1:n.493+2T>G
XM_005251631.1:c.172+2T>G XP_005251688.1:n.172+2T>G
XM_011518073.1:c.-268T>G XP_011516375.1:n.-268T>G
XR_929374.1:n.580T>G
XM_017015320.2:c.493+2T>G XP_016870809.1:n.493+2T>G
XM_017015321.2:c.493+2T>G XP_016870810.1:n.493+2T>G
XM_017015323.2:c.-268T>G XP_016870812.1:n.-268T>G
XM_024447716.1:c.766+2T>G XP_024303484.1:n.766+2T>G
XM_024447717.1:c.766+2T>G XP_024303485.1:n.766+2T>G
XR_002956828.1:n.781+2T>G
XR_002956829.1:n.781+2T>G
XR_002956830.1:n.552+2T>G
XR_002956831.1:n.227+2T>G
XR_002956832.1:n.554T>G
NM_012203.2:c.493+2T>G MANE Select NP_036335.1:n.493+2T>G