Canonical Allele Identifier: CA2573144554

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1589500
• ClinVar RCV Id: RCV002101065
• dbSNP Id: rs2118872637

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428474C>T , CM000671.2:g.37428474C>T	GRCh38
NC_000009.11:g.37428471C>T , CM000671.1:g.37428471C>T	GRCh37
NC_000009.10:g.37418471C>T	NCBI36
NG_008135.1:g.10765C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.405-10C>T MANE Select	ENSP00000313432.6:n.405-10C>T
ENST00000318158.10:c.405-10C>T	ENSP00000313432.6:n.405-10C>T
ENST00000377824.8:n.442-10C>T
ENST00000460882.5:n.432-10C>T
ENST00000491488.5:n.110-10C>T
ENST00000493368.5:n.462-10C>T
ENST00000497693.1:n.769C>T
ENST00000607784.1:c.405-10C>T	ENSP00000475569.1:n.405-10C>T
NM_012203.1:c.405-10C>T	NP_036335.1:n.405-10C>T
XM_005251631.1:c.84-10C>T	XP_005251688.1:n.84-10C>T
XM_011518073.1:c.-358-10C>T	XP_011516375.1:n.-358-10C>T
XR_929374.1:n.490-10C>T
XM_017015320.2:c.405-10C>T	XP_016870809.1:n.405-10C>T
XM_017015321.2:c.405-10C>T	XP_016870810.1:n.405-10C>T
XM_017015323.2:c.-358-10C>T	XP_016870812.1:n.-358-10C>T
XM_024447716.1:c.678-10C>T	XP_024303484.1:n.678-10C>T
XM_024447717.1:c.678-10C>T	XP_024303485.1:n.678-10C>T
XR_002956828.1:n.693-10C>T
XR_002956829.1:n.693-10C>T
XR_002956830.1:n.464-10C>T
XR_002956831.1:n.139-10C>T
XR_002956832.1:n.464-10C>T
NM_012203.2:c.405-10C>T MANE Select	NP_036335.1:n.405-10C>T