Canonical Allele Identifier: CA192896223

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1121464
• ClinVar RCV Id: RCV001451763
• dbSNP Id: rs199872148
• gnomAD v2: 9-37436648-T-C
• gnomAD v3: 9-37436651-T-C
• gnomAD v4: 9-37436651-T-C
• MyVariant Identifiers: chr9:g.37436648T>C (hg19) ; chr9:g.37436651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436651T>C , CM000671.2:g.37436651T>C	GRCh38
NC_000009.11:g.37436648T>C , CM000671.1:g.37436648T>C	GRCh37
NC_000009.10:g.37426648T>C	NCBI36
NG_008135.1:g.18942T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-10T>C MANE Select	ENSP00000313432.6:n.866-10T>C
ENST00000318158.10:c.866-10T>C	ENSP00000313432.6:n.866-10T>C
ENST00000460882.5:n.893-10T>C
ENST00000480596.5:n.1567-10T>C
ENST00000491488.5:n.571-10T>C
ENST00000494290.1:c.*52-230T>C	ENSP00000432021.1:n.*52-230T>C
ENST00000497693.1:n.4434-10T>C
NM_012203.1:c.866-10T>C	NP_036335.1:n.866-10T>C
XM_005251631.1:c.545-10T>C	XP_005251688.1:n.545-10T>C
XM_011518073.1:c.464-10T>C	XP_011516375.1:n.464-10T>C
XM_017015320.2:c.946-760T>C	XP_016870809.1:n.946-760T>C
XM_017015321.2:c.866-760T>C	XP_016870810.1:n.866-760T>C
XM_017015323.2:c.544-760T>C	XP_016870812.1:n.544-760T>C
XM_024447716.1:c.1219-760T>C	XP_024303484.1:n.1219-760T>C
XM_024447717.1:c.1139-760T>C	XP_024303485.1:n.1139-760T>C
XR_002956828.1:n.1234-760T>C
XR_002956829.1:n.1154-760T>C
XR_002956830.1:n.2286-10T>C
XR_002956831.1:n.1961-10T>C
XR_002956832.1:n.1285-10T>C
NM_012203.2:c.866-10T>C MANE Select	NP_036335.1:n.866-10T>C