Canonical Allele Identifier: CA373445390

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436708T>C (hg19) ; chr9:g.37436711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436711T>C , CM000671.2:g.37436711T>C	GRCh38
NC_000009.11:g.37436708T>C , CM000671.1:g.37436708T>C	GRCh37
NC_000009.10:g.37426708T>C	NCBI36
NG_008135.1:g.19002T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.916T>C MANE Select	ENSP00000313432.6:p.Ser306Pro
ENST00000318158.10:c.916T>C	ENSP00000313432.6:p.Ser306Pro
ENST00000460882.5:n.943T>C
ENST00000480596.5:n.1617T>C
ENST00000494290.1:c.*52-170T>C	ENSP00000432021.1:n.*52-170T>C
ENST00000497693.1:n.4484T>C
NM_012203.1:c.916T>C	NP_036335.1:p.Ser306Pro
XM_005251631.1:c.595T>C	XP_005251688.1:p.Ser199Pro
XM_011518073.1:c.514T>C	XP_011516375.1:p.Ser172Pro
XM_017015320.2:c.946-700T>C	XP_016870809.1:n.946-700T>C
XM_017015321.2:c.866-700T>C	XP_016870810.1:n.866-700T>C
XM_017015323.2:c.544-700T>C	XP_016870812.1:n.544-700T>C
XM_024447716.1:c.1219-700T>C	XP_024303484.1:n.1219-700T>C
XM_024447717.1:c.1139-700T>C	XP_024303485.1:n.1139-700T>C
XR_002956828.1:n.1234-700T>C
XR_002956829.1:n.1154-700T>C
XR_002956830.1:n.2336T>C
XR_002956831.1:n.2011T>C
XR_002956832.1:n.1335T>C
NM_012203.2:c.916T>C MANE Select	NP_036335.1:p.Ser306Pro