Canonical Allele Identifier: CA1123330284

Gene: GRHPR

Linked Data

• dbSNP Id: rs1258713263
• gnomAD v3: 9-37436799-G-T
• gnomAD v4: 9-37436799-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436799G>T , CM000671.2:g.37436799G>T	GRCh38
NC_000009.11:g.37436796G>T , CM000671.1:g.37436796G>T	GRCh37
NC_000009.10:g.37426796G>T	NCBI36
NG_008135.1:g.19090G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*17G>T MANE Select	ENSP00000313432.6:n.*17G>T
ENST00000318158.10:c.*17G>T	ENSP00000313432.6:n.*17G>T
ENST00000460882.5:n.1031G>T
ENST00000480596.5:n.1705G>T
ENST00000494290.1:c.*52-82G>T	ENSP00000432021.1:n.*52-82G>T
ENST00000497693.1:n.4572G>T
NM_012203.1:c.*17G>T	NP_036335.1:n.*17G>T
XM_005251631.1:c.*17G>T	XP_005251688.1:n.*17G>T
XM_011518073.1:c.*17G>T	XP_011516375.1:n.*17G>T
XM_017015320.2:c.946-612G>T	XP_016870809.1:n.946-612G>T
XM_017015321.2:c.866-612G>T	XP_016870810.1:n.866-612G>T
XM_017015323.2:c.544-612G>T	XP_016870812.1:n.544-612G>T
XM_024447716.1:c.1219-612G>T	XP_024303484.1:n.1219-612G>T
XM_024447717.1:c.1139-612G>T	XP_024303485.1:n.1139-612G>T
XR_002956828.1:n.1234-612G>T
XR_002956829.1:n.1154-612G>T
XR_002956830.1:n.2424G>T
XR_002956831.1:n.2099G>T
XR_002956832.1:n.1423G>T
NM_012203.2:c.*17G>T MANE Select	NP_036335.1:n.*17G>T