Canonical Allele Identifier: CA465003806
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37425944-C-T
MyVariant Identifiers: chr9:g.37425941C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425944C>T , CM000671.2:g.37425944C>T GRCh38
NC_000009.11:g.37425941C>T , CM000671.1:g.37425941C>T GRCh37
NC_000009.10:g.37415941C>T NCBI36
NG_008135.1:g.8235C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.237C>T MANE Select ENSP00000313432.6:p.Ser79=
ENST00000318158.10:c.237C>T ENSP00000313432.6:p.Ser79=
ENST00000377824.8:n.274C>T
ENST00000460882.5:n.264C>T
ENST00000487399.5:n.246C>T
ENST00000491488.5:n.110-2540C>T
ENST00000493368.5:n.294C>T
ENST00000607784.1:c.237C>T ENSP00000475569.1:p.Ser79=
NM_012203.1:c.237C>T NP_036335.1:p.Ser79=
XM_005251631.1:c.84-2540C>T XP_005251688.1:n.84-2540C>T
XM_011518073.1:c.-526C>T XP_011516375.1:n.-526C>T
XR_929374.1:n.322C>T
XM_017015320.2:c.237C>T XP_016870809.1:p.Ser79=
XM_017015321.2:c.237C>T XP_016870810.1:p.Ser79=
XM_017015323.2:c.-526C>T XP_016870812.1:n.-526C>T
XM_024447716.1:c.510C>T XP_024303484.1:p.Ser170=
XM_024447717.1:c.510C>T XP_024303485.1:p.Ser170=
XR_002956828.1:n.525C>T
XR_002956829.1:n.525C>T
XR_002956830.1:n.296C>T
XR_002956831.1:n.139-2540C>T
XR_002956832.1:n.296C>T
NM_012203.2:c.237C>T MANE Select NP_036335.1:p.Ser79=