Canonical Allele Identifier: CA587805445

Gene: GRHPR

Linked Data

• dbSNP Id: rs1449629613
• gnomAD v2: 9-37436598-C-T
• gnomAD v3: 9-37436601-C-T
• gnomAD v4: 9-37436601-C-T
• MyVariant Identifiers: chr9:g.37436598C>T (hg19) ; chr9:g.37436601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436601C>T , CM000671.2:g.37436601C>T	GRCh38
NC_000009.11:g.37436598C>T , CM000671.1:g.37436598C>T	GRCh37
NC_000009.10:g.37426598C>T	NCBI36
NG_008135.1:g.18892C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-60C>T MANE Select	ENSP00000313432.6:n.866-60C>T
ENST00000318158.10:c.866-60C>T	ENSP00000313432.6:n.866-60C>T
ENST00000460882.5:n.893-60C>T
ENST00000480596.5:n.1567-60C>T
ENST00000491488.5:n.571-60C>T
ENST00000494290.1:c.*52-280C>T	ENSP00000432021.1:n.*52-280C>T
ENST00000497693.1:n.4434-60C>T
NM_012203.1:c.866-60C>T	NP_036335.1:n.866-60C>T
XM_005251631.1:c.545-60C>T	XP_005251688.1:n.545-60C>T
XM_011518073.1:c.464-60C>T	XP_011516375.1:n.464-60C>T
XM_017015320.2:c.946-810C>T	XP_016870809.1:n.946-810C>T
XM_017015321.2:c.866-810C>T	XP_016870810.1:n.866-810C>T
XM_017015323.2:c.544-810C>T	XP_016870812.1:n.544-810C>T
XM_024447716.1:c.1219-810C>T	XP_024303484.1:n.1219-810C>T
XM_024447717.1:c.1139-810C>T	XP_024303485.1:n.1139-810C>T
XR_002956828.1:n.1234-810C>T
XR_002956829.1:n.1154-810C>T
XR_002956830.1:n.2286-60C>T
XR_002956831.1:n.1961-60C>T
XR_002956832.1:n.1285-60C>T
NM_012203.2:c.866-60C>T MANE Select	NP_036335.1:n.866-60C>T