Canonical Allele Identifier: CA5059349

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 366861
• ClinVar RCV Id: RCV000266993 ; RCV002374610 ; RCV000969045
• dbSNP Id: rs142356700
• ExAC: 9:37436754 C / T
• gnomAD v2: 9-37436754-C-T
• gnomAD v3: 9-37436757-C-T
• gnomAD v4: 9-37436757-C-T
• MyVariant Identifiers: chr9:g.37436754C>T (hg19) ; chr9:g.37436757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436757C>T , CM000671.2:g.37436757C>T	GRCh38
NC_000009.11:g.37436754C>T , CM000671.1:g.37436754C>T	GRCh37
NC_000009.10:g.37426754C>T	NCBI36
NG_008135.1:g.19048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.962C>T MANE Select	ENSP00000313432.6:p.Pro321Leu
ENST00000318158.10:c.962C>T	ENSP00000313432.6:p.Pro321Leu
ENST00000460882.5:n.989C>T
ENST00000480596.5:n.1663C>T
ENST00000494290.1:c.*52-124C>T	ENSP00000432021.1:n.*52-124C>T
ENST00000497693.1:n.4530C>T
NM_012203.1:c.962C>T	NP_036335.1:p.Pro321Leu
XM_005251631.1:c.641C>T	XP_005251688.1:p.Pro214Leu
XM_011518073.1:c.560C>T	XP_011516375.1:p.Pro187Leu
XM_017015320.2:c.946-654C>T	XP_016870809.1:n.946-654C>T
XM_017015321.2:c.866-654C>T	XP_016870810.1:n.866-654C>T
XM_017015323.2:c.544-654C>T	XP_016870812.1:n.544-654C>T
XM_024447716.1:c.1219-654C>T	XP_024303484.1:n.1219-654C>T
XM_024447717.1:c.1139-654C>T	XP_024303485.1:n.1139-654C>T
XR_002956828.1:n.1234-654C>T
XR_002956829.1:n.1154-654C>T
XR_002956830.1:n.2382C>T
XR_002956831.1:n.2057C>T
XR_002956832.1:n.1381C>T
NM_012203.2:c.962C>T MANE Select	NP_036335.1:p.Pro321Leu