Canonical Allele Identifier: CA373443537

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429822-T-C
• MyVariant Identifiers: chr9:g.37429819T>C (hg19) ; chr9:g.37429822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429822T>C , CM000671.2:g.37429822T>C	GRCh38
NC_000009.11:g.37429819T>C , CM000671.1:g.37429819T>C	GRCh37
NC_000009.10:g.37419819T>C	NCBI36
NG_008135.1:g.12113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.584T>C MANE Select	ENSP00000313432.6:p.Phe195Ser
ENST00000318158.10:c.584T>C	ENSP00000313432.6:p.Phe195Ser
ENST00000377824.8:n.621T>C
ENST00000460882.5:n.611T>C
ENST00000480596.5:n.1285T>C
ENST00000482603.1:n.37T>C
ENST00000491488.5:n.289T>C
ENST00000494290.1:c.155T>C	ENSP00000432021.1:p.Phe52Ser
ENST00000497693.1:n.2117T>C
ENST00000607784.1:c.584T>C	ENSP00000475569.1:p.Phe195Ser
NM_012203.1:c.584T>C	NP_036335.1:p.Phe195Ser
XM_005251631.1:c.263T>C	XP_005251688.1:p.Phe88Ser
XM_011518073.1:c.182T>C	XP_011516375.1:p.Phe61Ser
XR_929374.1:n.1029T>C
XM_017015320.2:c.584T>C	XP_016870809.1:p.Phe195Ser
XM_017015321.2:c.584T>C	XP_016870810.1:p.Phe195Ser
XM_017015323.2:c.182T>C	XP_016870812.1:p.Phe61Ser
XM_024447716.1:c.857T>C	XP_024303484.1:p.Phe286Ser
XM_024447717.1:c.857T>C	XP_024303485.1:p.Phe286Ser
XR_002956828.1:n.872T>C
XR_002956829.1:n.872T>C
XR_002956830.1:n.643T>C
XR_002956831.1:n.318T>C
XR_002956832.1:n.1003T>C
NM_012203.2:c.584T>C MANE Select	NP_036335.1:p.Phe195Ser