Canonical Allele Identifier: CA16041325
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 371394
ClinVar RCV Id: RCV000411412
dbSNP Id: rs1057517238
MyVariant Identifiers: chr9:g.37425932dupA (hg19) chr9:g.37425935dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425935dup , CM000671.2:g.37425935dup GRCh38
NC_000009.11:g.37425932dup , CM000671.1:g.37425932dup GRCh37
NC_000009.10:g.37415932dup NCBI36
NG_008135.1:g.8226dup

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.228dup MANE Select ENSP00000313432.6:p.Val77SerfsTer16
ENST00000318158.10:c.228dup ENSP00000313432.6:p.Val77SerfsTer16
ENST00000377824.8:n.265dup
ENST00000460882.5:n.255dup
ENST00000487399.5:n.237dup
ENST00000491488.5:n.110-2549dup
ENST00000493368.5:n.285dup
ENST00000607784.1:c.228dup ENSP00000475569.1:p.Val77SerfsTer16
NM_012203.1:c.228dup NP_036335.1:p.Val77SerfsTer16
XM_005251631.1:c.84-2549dup XP_005251688.1:n.84-2549dup
XM_011518073.1:c.-535dup XP_011516375.1:n.-535dup
XR_929374.1:n.313dup
XM_017015320.2:c.228dup XP_016870809.1:p.Val77SerfsTer16
XM_017015321.2:c.228dup XP_016870810.1:p.Val77SerfsTer16
XM_017015323.2:c.-535dup XP_016870812.1:n.-535dup
XM_024447716.1:c.501dup XP_024303484.1:p.Val168SerfsTer16
XM_024447717.1:c.501dup XP_024303485.1:p.Val168SerfsTer16
XR_002956828.1:n.516dup
XR_002956829.1:n.516dup
XR_002956830.1:n.287dup
XR_002956831.1:n.139-2549dup
XR_002956832.1:n.287dup
NM_012203.2:c.228dup MANE Select NP_036335.1:p.Val77SerfsTer16
Search 100 bp 5'
Search 100 bp 3'