Canonical Allele Identifier: CA5059348

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 427140
• ClinVar RCV Id: RCV000490104 ; RCV001167414
• dbSNP Id: rs142835989
• ExAC: 9:37436747 G / T
• gnomAD v2: 9-37436747-G-T
• gnomAD v3: 9-37436750-G-T
• gnomAD v4: 9-37436750-G-T
• MyVariant Identifiers: chr9:g.37436747G>T (hg19) ; chr9:g.37436750G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436750G>T , CM000671.2:g.37436750G>T	GRCh38
NC_000009.11:g.37436747G>T , CM000671.1:g.37436747G>T	GRCh37
NC_000009.10:g.37426747G>T	NCBI36
NG_008135.1:g.19041G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.955G>T MANE Select	ENSP00000313432.6:p.Gly319Trp
ENST00000318158.10:c.955G>T	ENSP00000313432.6:p.Gly319Trp
ENST00000460882.5:n.982G>T
ENST00000480596.5:n.1656G>T
ENST00000494290.1:c.*52-131G>T	ENSP00000432021.1:n.*52-131G>T
ENST00000497693.1:n.4523G>T
NM_012203.1:c.955G>T	NP_036335.1:p.Gly319Trp
XM_005251631.1:c.634G>T	XP_005251688.1:p.Gly212Trp
XM_011518073.1:c.553G>T	XP_011516375.1:p.Gly185Trp
XM_017015320.2:c.946-661G>T	XP_016870809.1:n.946-661G>T
XM_017015321.2:c.866-661G>T	XP_016870810.1:n.866-661G>T
XM_017015323.2:c.544-661G>T	XP_016870812.1:n.544-661G>T
XM_024447716.1:c.1219-661G>T	XP_024303484.1:n.1219-661G>T
XM_024447717.1:c.1139-661G>T	XP_024303485.1:n.1139-661G>T
XR_002956828.1:n.1234-661G>T
XR_002956829.1:n.1154-661G>T
XR_002956830.1:n.2375G>T
XR_002956831.1:n.2050G>T
XR_002956832.1:n.1374G>T
NM_012203.2:c.955G>T MANE Select	NP_036335.1:p.Gly319Trp