Canonical Allele Identifier: CA16041332
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 370863
ClinVar RCV Id: RCV000409413 RCV001865266
dbSNP Id: rs1057516823
MyVariant Identifiers: chr9:g.37432025dupA (hg19) chr9:g.37432028dupA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432028dup , CM000671.2:g.37432028dup GRCh38
NC_000009.11:g.37432025dup , CM000671.1:g.37432025dup GRCh37
NC_000009.10:g.37422025dup NCBI36
NG_008135.1:g.14319dup

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.755dup MANE Select ENSP00000313432.6:p.Asp252GlufsTer11
ENST00000318158.10:c.755dup ENSP00000313432.6:p.Asp252GlufsTer11
ENST00000460882.5:n.782dup
ENST00000480596.5:n.1456dup
ENST00000482603.1:n.208dup
ENST00000491488.5:n.460dup
ENST00000494290.1:c.*51+877dup ENSP00000432021.1:n.*51+877dup
ENST00000497693.1:n.4323dup
ENST00000607784.1:c.755dup ENSP00000475569.1:p.Asp252GlufsTer11
NM_012203.1:c.755dup NP_036335.1:p.Asp252GlufsTer11
XM_005251631.1:c.434dup XP_005251688.1:p.Asp145GlufsTer11
XM_011518073.1:c.353dup XP_011516375.1:p.Asp118GlufsTer11
XM_017015320.2:c.755dup XP_016870809.1:p.Asp252GlufsTer11
XM_017015321.2:c.755dup XP_016870810.1:p.Asp252GlufsTer11
XM_017015323.2:c.353dup XP_016870812.1:p.Asp118GlufsTer11
XM_024447716.1:c.1028dup XP_024303484.1:p.Asp343GlufsTer11
XM_024447717.1:c.1028dup XP_024303485.1:p.Asp343GlufsTer11
XR_002956828.1:n.1043dup
XR_002956829.1:n.1043dup
XR_002956830.1:n.2175dup
XR_002956831.1:n.1850dup
XR_002956832.1:n.1174dup
NM_012203.2:c.755dup MANE Select NP_036335.1:p.Asp252GlufsTer11
Search 100 bp 5'
Search 100 bp 3'