Canonical Allele Identifier: CA5059053

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428491T>C , CM000671.2:g.37428491T>C	GRCh38
NC_000009.11:g.37428488T>C , CM000671.1:g.37428488T>C	GRCh37
NC_000009.10:g.37418488T>C	NCBI36
NG_008135.1:g.10782T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012203.2:c.412T>C MANE Select	NP_036335.1:p.Trp138Arg
ENST00000318158.11:c.412T>C MANE Select	ENSP00000313432.6:p.Trp138Arg
NM_012203.1:c.412T>C	NP_036335.1:p.Trp138Arg
ENST00000318158.10:c.412T>C	ENSP00000313432.6:p.Trp138Arg
ENST00000377824.8:n.449T>C
ENST00000460882.5:n.439T>C
ENST00000491488.5:n.117T>C
ENST00000493368.5:n.469T>C
ENST00000497693.1:n.786T>C
ENST00000607784.1:c.412T>C	ENSP00000475569.1:p.Trp138Arg
XM_005251631.1:c.91T>C	XP_005251688.1:p.Trp31Arg
XM_011518073.1:c.-351T>C	XP_011516375.1:n.-351T>C
XM_017015320.2:c.412T>C	XP_016870809.1:p.Trp138Arg
XM_017015321.2:c.412T>C	XP_016870810.1:p.Trp138Arg
XM_017015323.2:c.-351T>C	XP_016870812.1:n.-351T>C
XM_024447716.1:c.685T>C	XP_024303484.1:p.Trp229Arg
XM_024447717.1:c.685T>C	XP_024303485.1:p.Trp229Arg
XR_002956828.1:n.700T>C
XR_002956829.1:n.700T>C
XR_002956830.1:n.471T>C
XR_002956831.1:n.146T>C
XR_002956832.1:n.471T>C
XR_929374.1:n.497T>C