Canonical Allele Identifier: CA362378905
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454453
ClinVar RCV Id: RCV001960668
dbSNP Id: rs2113060683
MyVariant Identifiers: chr5:g.177420039G>A (hg19) chr5:g.177993038G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177993038G>A , CM000667.2:g.177993038G>A GRCh38
NC_000005.9:g.177420039G>A , CM000667.1:g.177420039G>A GRCh37
NC_000005.8:g.177352645G>A NCBI36
NG_015889.1:g.8205C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308304.2:c.352C>T MANE Select ENSP00000311290.2:p.Gln118Ter
NM_006261.4:c.352C>T NP_006252.3:p.Gln118Ter
NM_006261.5:c.352C>T MANE Select NP_006252.4:p.Gln118Ter
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