Canonical Allele Identifier: CA465003919
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37426625-G-C
MyVariant Identifiers: chr9:g.37426622G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426625G>C , CM000671.2:g.37426625G>C GRCh38
NC_000009.11:g.37426622G>C , CM000671.1:g.37426622G>C GRCh37
NC_000009.10:g.37416622G>C NCBI36
NG_008135.1:g.8916G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.375G>C MANE Select ENSP00000313432.6:p.Arg125=
ENST00000318158.10:c.375G>C ENSP00000313432.6:p.Arg125=
ENST00000377824.8:n.412G>C
ENST00000460882.5:n.402G>C
ENST00000487399.5:n.927G>C
ENST00000491488.5:n.110-1859G>C
ENST00000493368.5:n.432G>C
ENST00000607784.1:c.375G>C ENSP00000475569.1:p.Arg125=
NM_012203.1:c.375G>C NP_036335.1:p.Arg125=
XM_005251631.1:c.84-1859G>C XP_005251688.1:n.84-1859G>C
XM_011518073.1:c.-388G>C XP_011516375.1:n.-388G>C
XR_929374.1:n.460G>C
XM_017015320.2:c.375G>C XP_016870809.1:p.Arg125=
XM_017015321.2:c.375G>C XP_016870810.1:p.Arg125=
XM_017015323.2:c.-388G>C XP_016870812.1:n.-388G>C
XM_024447716.1:c.648G>C XP_024303484.1:p.Arg216=
XM_024447717.1:c.648G>C XP_024303485.1:p.Arg216=
XR_002956828.1:n.663G>C
XR_002956829.1:n.663G>C
XR_002956830.1:n.434G>C
XR_002956831.1:n.139-1859G>C
XR_002956832.1:n.434G>C
NM_012203.2:c.375G>C MANE Select NP_036335.1:p.Arg125=