Canonical Allele Identifier: CA5059064

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1624822
• ClinVar RCV Id: RCV002106386
• dbSNP Id: rs767483014
• ExAC: 9:37428553 C / T
• gnomAD v2: 9-37428553-C-T
• gnomAD v3: 9-37428556-C-T
• gnomAD v4: 9-37428556-C-T
• MyVariant Identifiers: chr9:g.37428553C>T (hg19) ; chr9:g.37428556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37428556C>T , CM000671.2:g.37428556C>T	GRCh38
NC_000009.11:g.37428553C>T , CM000671.1:g.37428553C>T	GRCh37
NC_000009.10:g.37418553C>T	NCBI36
NG_008135.1:g.10847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.477C>T MANE Select	ENSP00000313432.6:p.Ile159=
ENST00000318158.10:c.477C>T	ENSP00000313432.6:p.Ile159=
ENST00000377824.8:n.514C>T
ENST00000460882.5:n.504C>T
ENST00000480596.5:n.19C>T
ENST00000491488.5:n.182C>T
ENST00000493368.5:n.534C>T
ENST00000497693.1:n.851C>T
ENST00000607784.1:c.477C>T	ENSP00000475569.1:p.Ile159=
NM_012203.1:c.477C>T	NP_036335.1:p.Ile159=
XM_005251631.1:c.156C>T	XP_005251688.1:p.Ile52=
XM_011518073.1:c.-286C>T	XP_011516375.1:n.-286C>T
XR_929374.1:n.562C>T
XM_017015320.2:c.477C>T	XP_016870809.1:p.Ile159=
XM_017015321.2:c.477C>T	XP_016870810.1:p.Ile159=
XM_017015323.2:c.-286C>T	XP_016870812.1:n.-286C>T
XM_024447716.1:c.750C>T	XP_024303484.1:p.Ile250=
XM_024447717.1:c.750C>T	XP_024303485.1:p.Ile250=
XR_002956828.1:n.765C>T
XR_002956829.1:n.765C>T
XR_002956830.1:n.536C>T
XR_002956831.1:n.211C>T
XR_002956832.1:n.536C>T
NM_012203.2:c.477C>T MANE Select	NP_036335.1:p.Ile159=