Canonical Allele Identifier: CA5059311

Gene: GRHPR

Linked Data

• dbSNP Id: rs763750838
• ExAC: 9:37436612 T / C
• gnomAD v2: 9-37436612-T-C
• gnomAD v4: 9-37436615-T-C
• MyVariant Identifiers: chr9:g.37436612T>C (hg19) ; chr9:g.37436615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436615T>C , CM000671.2:g.37436615T>C	GRCh38
NC_000009.11:g.37436612T>C , CM000671.1:g.37436612T>C	GRCh37
NC_000009.10:g.37426612T>C	NCBI36
NG_008135.1:g.18906T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-46T>C MANE Select	ENSP00000313432.6:n.866-46T>C
ENST00000318158.10:c.866-46T>C	ENSP00000313432.6:n.866-46T>C
ENST00000460882.5:n.893-46T>C
ENST00000480596.5:n.1567-46T>C
ENST00000491488.5:n.571-46T>C
ENST00000494290.1:c.*52-266T>C	ENSP00000432021.1:n.*52-266T>C
ENST00000497693.1:n.4434-46T>C
NM_012203.1:c.866-46T>C	NP_036335.1:n.866-46T>C
XM_005251631.1:c.545-46T>C	XP_005251688.1:n.545-46T>C
XM_011518073.1:c.464-46T>C	XP_011516375.1:n.464-46T>C
XM_017015320.2:c.946-796T>C	XP_016870809.1:n.946-796T>C
XM_017015321.2:c.866-796T>C	XP_016870810.1:n.866-796T>C
XM_017015323.2:c.544-796T>C	XP_016870812.1:n.544-796T>C
XM_024447716.1:c.1219-796T>C	XP_024303484.1:n.1219-796T>C
XM_024447717.1:c.1139-796T>C	XP_024303485.1:n.1139-796T>C
XR_002956828.1:n.1234-796T>C
XR_002956829.1:n.1154-796T>C
XR_002956830.1:n.2286-46T>C
XR_002956831.1:n.1961-46T>C
XR_002956832.1:n.1285-46T>C
NM_012203.2:c.866-46T>C MANE Select	NP_036335.1:n.866-46T>C