Canonical Allele Identifier: CA373442123

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37425937-T-C
• MyVariant Identifiers: chr9:g.37425934T>C (hg19) ; chr9:g.37425937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425937T>C , CM000671.2:g.37425937T>C	GRCh38
NC_000009.11:g.37425934T>C , CM000671.1:g.37425934T>C	GRCh37
NC_000009.10:g.37415934T>C	NCBI36
NG_008135.1:g.8228T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.230T>C MANE Select	ENSP00000313432.6:p.Val77Ala
ENST00000318158.10:c.230T>C	ENSP00000313432.6:p.Val77Ala
ENST00000377824.8:n.267T>C
ENST00000460882.5:n.257T>C
ENST00000487399.5:n.239T>C
ENST00000491488.5:n.110-2547T>C
ENST00000493368.5:n.287T>C
ENST00000607784.1:c.230T>C	ENSP00000475569.1:p.Val77Ala
NM_012203.1:c.230T>C	NP_036335.1:p.Val77Ala
XM_005251631.1:c.84-2547T>C	XP_005251688.1:n.84-2547T>C
XM_011518073.1:c.-533T>C	XP_011516375.1:n.-533T>C
XR_929374.1:n.315T>C
XM_017015320.2:c.230T>C	XP_016870809.1:p.Val77Ala
XM_017015321.2:c.230T>C	XP_016870810.1:p.Val77Ala
XM_017015323.2:c.-533T>C	XP_016870812.1:n.-533T>C
XM_024447716.1:c.503T>C	XP_024303484.1:p.Val168Ala
XM_024447717.1:c.503T>C	XP_024303485.1:p.Val168Ala
XR_002956828.1:n.518T>C
XR_002956829.1:n.518T>C
XR_002956830.1:n.289T>C
XR_002956831.1:n.139-2547T>C
XR_002956832.1:n.289T>C
NM_012203.2:c.230T>C MANE Select	NP_036335.1:p.Val77Ala