Canonical Allele Identifier: CA5059339

Gene: GRHPR

Linked Data

• dbSNP Id: rs771438574
• ExAC: 9:37436683 C / T
• gnomAD v2: 9-37436683-C-T
• gnomAD v4: 9-37436686-C-T
• MyVariant Identifiers: chr9:g.37436683C>T (hg19) ; chr9:g.37436686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436686C>T , CM000671.2:g.37436686C>T	GRCh38
NC_000009.11:g.37436683C>T , CM000671.1:g.37436683C>T	GRCh37
NC_000009.10:g.37426683C>T	NCBI36
NG_008135.1:g.18977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.891C>T MANE Select	ENSP00000313432.6:p.Ala297=
ENST00000318158.10:c.891C>T	ENSP00000313432.6:p.Ala297=
ENST00000460882.5:n.918C>T
ENST00000480596.5:n.1592C>T
ENST00000491488.5:n.596C>T
ENST00000494290.1:c.*52-195C>T	ENSP00000432021.1:n.*52-195C>T
ENST00000497693.1:n.4459C>T
NM_012203.1:c.891C>T	NP_036335.1:p.Ala297=
XM_005251631.1:c.570C>T	XP_005251688.1:p.Ala190=
XM_011518073.1:c.489C>T	XP_011516375.1:p.Ala163=
XM_017015320.2:c.946-725C>T	XP_016870809.1:n.946-725C>T
XM_017015321.2:c.866-725C>T	XP_016870810.1:n.866-725C>T
XM_017015323.2:c.544-725C>T	XP_016870812.1:n.544-725C>T
XM_024447716.1:c.1219-725C>T	XP_024303484.1:n.1219-725C>T
XM_024447717.1:c.1139-725C>T	XP_024303485.1:n.1139-725C>T
XR_002956828.1:n.1234-725C>T
XR_002956829.1:n.1154-725C>T
XR_002956830.1:n.2311C>T
XR_002956831.1:n.1986C>T
XR_002956832.1:n.1310C>T
NM_012203.2:c.891C>T MANE Select	NP_036335.1:p.Ala297=