Canonical Allele Identifier: CA2830699164

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436405C>T , CM000671.2:g.37436405C>T	GRCh38
NC_000009.11:g.37436402C>T , CM000671.1:g.37436402C>T	GRCh37
NC_000009.10:g.37426402C>T	NCBI36
NG_008135.1:g.18696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.866-256C>T MANE Select	ENSP00000313432.6:n.866-256C>T
ENST00000318158.10:c.866-256C>T	ENSP00000313432.6:n.866-256C>T
ENST00000460882.5:n.893-256C>T
ENST00000480596.5:n.1567-256C>T
ENST00000491488.5:n.571-256C>T
ENST00000494290.1:c.*52-476C>T	ENSP00000432021.1:n.*52-476C>T
ENST00000497693.1:n.4434-256C>T
NM_012203.1:c.866-256C>T	NP_036335.1:n.866-256C>T
XM_005251631.1:c.545-256C>T	XP_005251688.1:n.545-256C>T
XM_011518073.1:c.464-256C>T	XP_011516375.1:n.464-256C>T
XM_017015320.2:c.946-1006C>T	XP_016870809.1:n.946-1006C>T
XM_017015321.2:c.866-1006C>T	XP_016870810.1:n.866-1006C>T
XM_017015323.2:c.544-1006C>T	XP_016870812.1:n.544-1006C>T
XM_024447716.1:c.1219-1006C>T	XP_024303484.1:n.1219-1006C>T
XM_024447717.1:c.1139-1006C>T	XP_024303485.1:n.1139-1006C>T
XR_002956828.1:n.1234-1006C>T
XR_002956829.1:n.1154-1006C>T
XR_002956830.1:n.2286-256C>T
XR_002956831.1:n.1961-256C>T
XR_002956832.1:n.1285-256C>T
NM_012203.2:c.866-256C>T MANE Select	NP_036335.1:n.866-256C>T