Canonical Allele Identifier: CA373445517

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436759C>T (hg19) ; chr9:g.37436762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436762C>T , CM000671.2:g.37436762C>T	GRCh38
NC_000009.11:g.37436759C>T , CM000671.1:g.37436759C>T	GRCh37
NC_000009.10:g.37426759C>T	NCBI36
NG_008135.1:g.19053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.967C>T MANE Select	ENSP00000313432.6:p.Pro323Ser
ENST00000318158.10:c.967C>T	ENSP00000313432.6:p.Pro323Ser
ENST00000460882.5:n.994C>T
ENST00000480596.5:n.1668C>T
ENST00000494290.1:c.*52-119C>T	ENSP00000432021.1:n.*52-119C>T
ENST00000497693.1:n.4535C>T
NM_012203.1:c.967C>T	NP_036335.1:p.Pro323Ser
XM_005251631.1:c.646C>T	XP_005251688.1:p.Pro216Ser
XM_011518073.1:c.565C>T	XP_011516375.1:p.Pro189Ser
XM_017015320.2:c.946-649C>T	XP_016870809.1:n.946-649C>T
XM_017015321.2:c.866-649C>T	XP_016870810.1:n.866-649C>T
XM_017015323.2:c.544-649C>T	XP_016870812.1:n.544-649C>T
XM_024447716.1:c.1219-649C>T	XP_024303484.1:n.1219-649C>T
XM_024447717.1:c.1139-649C>T	XP_024303485.1:n.1139-649C>T
XR_002956828.1:n.1234-649C>T
XR_002956829.1:n.1154-649C>T
XR_002956830.1:n.2387C>T
XR_002956831.1:n.2062C>T
XR_002956832.1:n.1386C>T
NM_012203.2:c.967C>T MANE Select	NP_036335.1:p.Pro323Ser