Canonical Allele Identifier: CA2838955233

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424993A>T , CM000671.2:g.37424993A>T	GRCh38
NC_000009.11:g.37424990A>T , CM000671.1:g.37424990A>T	GRCh37
NC_000009.10:g.37414990A>T	NCBI36
NG_008135.1:g.7284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.214+18A>T MANE Select	ENSP00000313432.6:n.214+18A>T
ENST00000318158.10:c.214+18A>T	ENSP00000313432.6:n.214+18A>T
ENST00000377824.8:n.251+18A>T
ENST00000460882.5:n.241+18A>T
ENST00000487399.5:n.223+18A>T
ENST00000491488.5:n.109+2160A>T
ENST00000493368.5:n.271+18A>T
ENST00000607784.1:c.214+18A>T	ENSP00000475569.1:n.214+18A>T
NM_012203.1:c.214+18A>T	NP_036335.1:n.214+18A>T
XM_005251631.1:c.83+2160A>T	XP_005251688.1:n.83+2160A>T
XM_011518073.1:c.-549+18A>T	XP_011516375.1:n.-549+18A>T
XR_929374.1:n.299+18A>T
XM_017015320.2:c.214+18A>T	XP_016870809.1:n.214+18A>T
XM_017015321.2:c.214+18A>T	XP_016870810.1:n.214+18A>T
XM_017015323.2:c.-549+18A>T	XP_016870812.1:n.-549+18A>T
XM_024447716.1:c.487+18A>T	XP_024303484.1:n.487+18A>T
XM_024447717.1:c.487+18A>T	XP_024303485.1:n.487+18A>T
XR_002956828.1:n.502+18A>T
XR_002956829.1:n.502+18A>T
XR_002956830.1:n.273+18A>T
XR_002956831.1:n.138+2160A>T
XR_002956832.1:n.273+18A>T
NM_012203.2:c.214+18A>T MANE Select	NP_036335.1:n.214+18A>T