Canonical Allele Identifier: CA373443409

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429786-C-A
• MyVariant Identifiers: chr9:g.37429783C>A (hg19) ; chr9:g.37429786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429786C>A , CM000671.2:g.37429786C>A	GRCh38
NC_000009.11:g.37429783C>A , CM000671.1:g.37429783C>A	GRCh37
NC_000009.10:g.37419783C>A	NCBI36
NG_008135.1:g.12077C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.548C>A MANE Select	ENSP00000313432.6:p.Thr183Lys
ENST00000318158.10:c.548C>A	ENSP00000313432.6:p.Thr183Lys
ENST00000377824.8:n.585C>A
ENST00000460882.5:n.575C>A
ENST00000480596.5:n.1249C>A
ENST00000482603.1:n.1C>A
ENST00000491488.5:n.253C>A
ENST00000494290.1:c.119C>A	ENSP00000432021.1:p.Thr40Lys
ENST00000497693.1:n.2081C>A
ENST00000607784.1:c.548C>A	ENSP00000475569.1:p.Thr183Lys
NM_012203.1:c.548C>A	NP_036335.1:p.Thr183Lys
XM_005251631.1:c.227C>A	XP_005251688.1:p.Thr76Lys
XM_011518073.1:c.146C>A	XP_011516375.1:p.Thr49Lys
XR_929374.1:n.993C>A
XM_017015320.2:c.548C>A	XP_016870809.1:p.Thr183Lys
XM_017015321.2:c.548C>A	XP_016870810.1:p.Thr183Lys
XM_017015323.2:c.146C>A	XP_016870812.1:p.Thr49Lys
XM_024447716.1:c.821C>A	XP_024303484.1:p.Thr274Lys
XM_024447717.1:c.821C>A	XP_024303485.1:p.Thr274Lys
XR_002956828.1:n.836C>A
XR_002956829.1:n.836C>A
XR_002956830.1:n.607C>A
XR_002956831.1:n.282C>A
XR_002956832.1:n.967C>A
NM_012203.2:c.548C>A MANE Select	NP_036335.1:p.Thr183Lys