Canonical Allele Identifier: CA5059367

Gene: GRHPR

Linked Data

• dbSNP Id: rs765995083
• ExAC: 9:37436826 T / C
• gnomAD v2: 9-37436826-T-C
• gnomAD v4: 9-37436829-T-C
• MyVariant Identifiers: chr9:g.37436826T>C (hg19) ; chr9:g.37436829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436829T>C , CM000671.2:g.37436829T>C	GRCh38
NC_000009.11:g.37436826T>C , CM000671.1:g.37436826T>C	GRCh37
NC_000009.10:g.37426826T>C	NCBI36
NG_008135.1:g.19120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*47T>C MANE Select	ENSP00000313432.6:n.*47T>C
ENST00000318158.10:c.*47T>C	ENSP00000313432.6:n.*47T>C
ENST00000460882.5:n.1061T>C
ENST00000480596.5:n.1735T>C
ENST00000494290.1:c.*52-52T>C	ENSP00000432021.1:n.*52-52T>C
ENST00000497693.1:n.4602T>C
NM_012203.1:c.*47T>C	NP_036335.1:n.*47T>C
XM_005251631.1:c.*47T>C	XP_005251688.1:n.*47T>C
XM_011518073.1:c.*47T>C	XP_011516375.1:n.*47T>C
XM_017015320.2:c.946-582T>C	XP_016870809.1:n.946-582T>C
XM_017015321.2:c.866-582T>C	XP_016870810.1:n.866-582T>C
XM_017015323.2:c.544-582T>C	XP_016870812.1:n.544-582T>C
XM_024447716.1:c.1219-582T>C	XP_024303484.1:n.1219-582T>C
XM_024447717.1:c.1139-582T>C	XP_024303485.1:n.1139-582T>C
XR_002956828.1:n.1234-582T>C
XR_002956829.1:n.1154-582T>C
XR_002956830.1:n.2454T>C
XR_002956831.1:n.2129T>C
XR_002956832.1:n.1453T>C
NM_012203.2:c.*47T>C MANE Select	NP_036335.1:n.*47T>C