Canonical Allele Identifier: CA132897376
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 552692
ClinVar RCV Id: RCV000667998 RCV001236943
dbSNP Id: rs146918863
gnomAD v2: 5-177420018-G-A
gnomAD v3: 5-177993017-G-A
gnomAD v4: 5-177993017-G-A
MyVariant Identifiers: chr5:g.177420018G>A (hg19) chr5:g.177993017G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177993017G>A , CM000667.2:g.177993017G>A GRCh38
NC_000005.9:g.177420018G>A , CM000667.1:g.177420018G>A GRCh37
NC_000005.8:g.177352624G>A NCBI36
NG_015889.1:g.8226C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.373C>T MANE Select ENSP00000311290.2:p.Arg125Trp
NM_006261.4:c.373C>T NP_006252.3:p.Arg125Trp
NM_006261.5:c.373C>T MANE Select NP_006252.4:p.Arg125Trp
Search 100 bp 5'
Search 100 bp 3'