Canonical Allele Identifier: CA16041324

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 371598
• ClinVar RCV Id: RCV000410412
• dbSNP Id: rs1057517398
• MyVariant Identifiers: chr9:g.37424974T>G (hg19) ; chr9:g.37424977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424977T>G , CM000671.2:g.37424977T>G	GRCh38
NC_000009.11:g.37424974T>G , CM000671.1:g.37424974T>G	GRCh37
NC_000009.10:g.37414974T>G	NCBI36
NG_008135.1:g.7268T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.214+2T>G MANE Select	ENSP00000313432.6:n.214+2T>G
ENST00000318158.10:c.214+2T>G	ENSP00000313432.6:n.214+2T>G
ENST00000377824.8:n.251+2T>G
ENST00000460882.5:n.241+2T>G
ENST00000487399.5:n.223+2T>G
ENST00000491488.5:n.109+2144T>G
ENST00000493368.5:n.271+2T>G
ENST00000607784.1:c.214+2T>G	ENSP00000475569.1:n.214+2T>G
NM_012203.1:c.214+2T>G	NP_036335.1:n.214+2T>G
XM_005251631.1:c.83+2144T>G	XP_005251688.1:n.83+2144T>G
XM_011518073.1:c.-549+2T>G	XP_011516375.1:n.-549+2T>G
XR_929374.1:n.299+2T>G
XM_017015320.2:c.214+2T>G	XP_016870809.1:n.214+2T>G
XM_017015321.2:c.214+2T>G	XP_016870810.1:n.214+2T>G
XM_017015323.2:c.-549+2T>G	XP_016870812.1:n.-549+2T>G
XM_024447716.1:c.487+2T>G	XP_024303484.1:n.487+2T>G
XM_024447717.1:c.487+2T>G	XP_024303485.1:n.487+2T>G
XR_002956828.1:n.502+2T>G
XR_002956829.1:n.502+2T>G
XR_002956830.1:n.273+2T>G
XR_002956831.1:n.138+2144T>G
XR_002956832.1:n.273+2T>G
NM_012203.2:c.214+2T>G MANE Select	NP_036335.1:n.214+2T>G