Canonical Allele Identifier: CA5058868

Gene: GRHPR

Linked Data

• dbSNP Id: rs534440132
• ExAC: 9:37422698 C / T
• gnomAD v2: 9-37422698-C-T
• gnomAD v3: 9-37422701-C-T
• gnomAD v4: 9-37422701-C-T
• MyVariant Identifiers: chr9:g.37422698C>T (hg19) ; chr9:g.37422701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37422701C>T , CM000671.2:g.37422701C>T	GRCh38
NC_000009.11:g.37422698C>T , CM000671.1:g.37422698C>T	GRCh37
NC_000009.10:g.37412698C>T	NCBI36
NG_008135.1:g.4992C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.-50C>T MANE Select	ENSP00000313432.6:n.-50C>T
ENST00000318158.10:c.-50C>T	ENSP00000313432.6:n.-50C>T
ENST00000460882.5:n.6C>T
ENST00000493368.5:n.36C>T
XM_005251631.1:c.-50C>T	XP_005251688.1:n.-50C>T
XR_929374.1:n.36C>T
XM_017015320.2:c.-50C>T	XP_016870809.1:n.-50C>T
XM_017015321.2:c.-50C>T	XP_016870810.1:n.-50C>T
XM_017015323.2:c.-812C>T	XP_016870812.1:n.-812C>T
XM_024447716.1:c.252C>T	XP_024303484.1:p.Phe84=
XM_024447717.1:c.252C>T	XP_024303485.1:p.Phe84=
XR_002956828.1:n.267C>T
XR_002956829.1:n.267C>T
XR_002956830.1:n.10C>T
XR_002956831.1:n.6C>T
XR_002956832.1:n.10C>T
NM_012203.2:c.-50C>T MANE Select	NP_036335.1:n.-50C>T