Canonical Allele Identifier: CA465006861

Gene: GRHPR

Linked Data

• MyVariant Identifiers: chr9:g.37436743G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436746G>C , CM000671.2:g.37436746G>C	GRCh38
NC_000009.11:g.37436743G>C , CM000671.1:g.37436743G>C	GRCh37
NC_000009.10:g.37426743G>C	NCBI36
NG_008135.1:g.19037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.951G>C MANE Select	ENSP00000313432.6:p.Leu317=
ENST00000318158.10:c.951G>C	ENSP00000313432.6:p.Leu317=
ENST00000460882.5:n.978G>C
ENST00000480596.5:n.1652G>C
ENST00000494290.1:c.*52-135G>C	ENSP00000432021.1:n.*52-135G>C
ENST00000497693.1:n.4519G>C
NM_012203.1:c.951G>C	NP_036335.1:p.Leu317=
XM_005251631.1:c.630G>C	XP_005251688.1:p.Leu210=
XM_011518073.1:c.549G>C	XP_011516375.1:p.Leu183=
XM_017015320.2:c.946-665G>C	XP_016870809.1:n.946-665G>C
XM_017015321.2:c.866-665G>C	XP_016870810.1:n.866-665G>C
XM_017015323.2:c.544-665G>C	XP_016870812.1:n.544-665G>C
XM_024447716.1:c.1219-665G>C	XP_024303484.1:n.1219-665G>C
XM_024447717.1:c.1139-665G>C	XP_024303485.1:n.1139-665G>C
XR_002956828.1:n.1234-665G>C
XR_002956829.1:n.1154-665G>C
XR_002956830.1:n.2371G>C
XR_002956831.1:n.2046G>C
XR_002956832.1:n.1370G>C
NM_012203.2:c.951G>C MANE Select	NP_036335.1:p.Leu317=