Canonical Allele Identifier: CA5059077

Gene: GRHPR

Linked Data

• dbSNP Id: rs376674882
• ExAC: 9:37428607 T / G
• MyVariant Identifiers: chr9:g.37428607T>G (hg19) ; chr9:g.37428610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428610T>G , CM000671.2:g.37428610T>G	GRCh38
NC_000009.11:g.37428607T>G , CM000671.1:g.37428607T>G	GRCh37
NC_000009.10:g.37418607T>G	NCBI36
NG_008135.1:g.10901T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+38T>G MANE Select	ENSP00000313432.6:n.493+38T>G
ENST00000318158.10:c.493+38T>G	ENSP00000313432.6:n.493+38T>G
ENST00000377824.8:n.530+38T>G
ENST00000460882.5:n.520+38T>G
ENST00000480596.5:n.73T>G
ENST00000491488.5:n.198+38T>G
ENST00000493368.5:n.588T>G
ENST00000497693.1:n.905T>G
ENST00000607784.1:c.493+38T>G	ENSP00000475569.1:n.493+38T>G
NM_012203.1:c.493+38T>G	NP_036335.1:n.493+38T>G
XM_005251631.1:c.172+38T>G	XP_005251688.1:n.172+38T>G
XM_011518073.1:c.-232T>G	XP_011516375.1:n.-232T>G
XR_929374.1:n.616T>G
XM_017015320.2:c.493+38T>G	XP_016870809.1:n.493+38T>G
XM_017015321.2:c.493+38T>G	XP_016870810.1:n.493+38T>G
XM_017015323.2:c.-232T>G	XP_016870812.1:n.-232T>G
XM_024447716.1:c.766+38T>G	XP_024303484.1:n.766+38T>G
XM_024447717.1:c.766+38T>G	XP_024303485.1:n.766+38T>G
XR_002956828.1:n.781+38T>G
XR_002956829.1:n.781+38T>G
XR_002956830.1:n.552+38T>G
XR_002956831.1:n.227+38T>G
XR_002956832.1:n.590T>G
NM_012203.2:c.493+38T>G MANE Select	NP_036335.1:n.493+38T>G