Canonical Allele Identifier: CA192890562

Gene: GRHPR

Linked Data

• dbSNP Id: rs972235328
• gnomAD v2: 9-37429756-C-T
• gnomAD v4: 9-37429759-C-T
• MyVariant Identifiers: chr9:g.37429756C>T (hg19) ; chr9:g.37429759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429759C>T , CM000671.2:g.37429759C>T	GRCh38
NC_000009.11:g.37429756C>T , CM000671.1:g.37429756C>T	GRCh37
NC_000009.10:g.37419756C>T	NCBI36
NG_008135.1:g.12050C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.521C>T MANE Select	ENSP00000313432.6:p.Pro174Leu
ENST00000318158.10:c.521C>T	ENSP00000313432.6:p.Pro174Leu
ENST00000377824.8:n.558C>T
ENST00000460882.5:n.548C>T
ENST00000480596.5:n.1222C>T
ENST00000491488.5:n.226C>T
ENST00000494290.1:c.92C>T	ENSP00000432021.1:p.Pro31Leu
ENST00000497693.1:n.2054C>T
ENST00000607784.1:c.521C>T	ENSP00000475569.1:p.Pro174Leu
NM_012203.1:c.521C>T	NP_036335.1:p.Pro174Leu
XM_005251631.1:c.200C>T	XP_005251688.1:p.Pro67Leu
XM_011518073.1:c.119C>T	XP_011516375.1:p.Pro40Leu
XR_929374.1:n.966C>T
XM_017015320.2:c.521C>T	XP_016870809.1:p.Pro174Leu
XM_017015321.2:c.521C>T	XP_016870810.1:p.Pro174Leu
XM_017015323.2:c.119C>T	XP_016870812.1:p.Pro40Leu
XM_024447716.1:c.794C>T	XP_024303484.1:p.Pro265Leu
XM_024447717.1:c.794C>T	XP_024303485.1:p.Pro265Leu
XR_002956828.1:n.809C>T
XR_002956829.1:n.809C>T
XR_002956830.1:n.580C>T
XR_002956831.1:n.255C>T
XR_002956832.1:n.940C>T
NM_012203.2:c.521C>T MANE Select	NP_036335.1:p.Pro174Leu