Canonical Allele Identifier: CA5059094

Gene: GRHPR

Linked Data

• dbSNP Id: rs763263606
• ExAC: 9:37428727 C / CA
• gnomAD v2: 9-37428727-C-CA
• gnomAD v4: 9-37428730-C-CA
• MyVariant Identifiers: chr9:g.37428727_37428728insA (hg19) ; chr9:g.37428730_37428731insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428731dup , CM000671.2:g.37428731dup	GRCh38
NC_000009.11:g.37428728dup , CM000671.1:g.37428728dup	GRCh37
NC_000009.10:g.37418728dup	NCBI36
NG_008135.1:g.11022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.493+159dup MANE Select	ENSP00000313432.6:n.493+159dup
ENST00000318158.10:c.493+159dup	ENSP00000313432.6:n.493+159dup
ENST00000377824.8:n.530+159dup
ENST00000460882.5:n.520+159dup
ENST00000480596.5:n.194dup
ENST00000491488.5:n.198+159dup
ENST00000493368.5:n.709dup
ENST00000497693.1:n.1026dup
ENST00000607784.1:c.493+159dup	ENSP00000475569.1:n.493+159dup
NM_012203.1:c.493+159dup	NP_036335.1:n.493+159dup
XM_005251631.1:c.172+159dup	XP_005251688.1:n.172+159dup
XM_011518073.1:c.-111dup	XP_011516375.1:n.-111dup
XR_929374.1:n.737dup
XM_017015320.2:c.493+159dup	XP_016870809.1:n.493+159dup
XM_017015321.2:c.493+159dup	XP_016870810.1:n.493+159dup
XM_017015323.2:c.-111dup	XP_016870812.1:n.-111dup
XM_024447716.1:c.766+159dup	XP_024303484.1:n.766+159dup
XM_024447717.1:c.766+159dup	XP_024303485.1:n.766+159dup
XR_002956828.1:n.781+159dup
XR_002956829.1:n.781+159dup
XR_002956830.1:n.552+159dup
XR_002956831.1:n.227+159dup
XR_002956832.1:n.711dup
NM_012203.2:c.493+159dup MANE Select	NP_036335.1:n.493+159dup