Canonical Allele Identifier: CA2741016273

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436956G>T , CM000671.2:g.37436956G>T	GRCh38
NC_000009.11:g.37436953G>T , CM000671.1:g.37436953G>T	GRCh37
NC_000009.10:g.37426953G>T	NCBI36
NG_008135.1:g.19247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.*174G>T MANE Select	ENSP00000313432.6:n.*174G>T
ENST00000318158.10:c.*174G>T	ENSP00000313432.6:n.*174G>T
ENST00000480596.5:n.1862G>T
ENST00000494290.1:c.*127G>T	ENSP00000432021.1:n.*127G>T
ENST00000497693.1:n.4729G>T
NM_012203.1:c.*174G>T	NP_036335.1:n.*174G>T
XM_005251631.1:c.*174G>T	XP_005251688.1:n.*174G>T
XM_011518073.1:c.*174G>T	XP_011516375.1:n.*174G>T
XM_017015320.2:c.946-455G>T	XP_016870809.1:n.946-455G>T
XM_017015321.2:c.866-455G>T	XP_016870810.1:n.866-455G>T
XM_017015323.2:c.544-455G>T	XP_016870812.1:n.544-455G>T
XM_024447716.1:c.1219-455G>T	XP_024303484.1:n.1219-455G>T
XM_024447717.1:c.1139-455G>T	XP_024303485.1:n.1139-455G>T
XR_002956828.1:n.1234-455G>T
XR_002956829.1:n.1154-455G>T
XR_002956830.1:n.2581G>T
XR_002956831.1:n.2256G>T
XR_002956832.1:n.1580G>T
NM_012203.2:c.*174G>T MANE Select	NP_036335.1:n.*174G>T