Canonical Allele Identifier: CA447990615
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2749914
ClinVar RCV Id: RCV003568689
dbSNP Id: rs766673446
MyVariant Identifiers: chr5:g.177421115G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177994114G>T , CM000667.2:g.177994114G>T GRCh38
NC_000005.9:g.177421115G>T , CM000667.1:g.177421115G>T GRCh37
NC_000005.8:g.177353721G>T NCBI36
NG_015889.1:g.7129C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308304.2:c.334C>A MANE Select ENSP00000311290.2:p.Arg112=
NM_006261.4:c.334C>A NP_006252.3:p.Arg112=
NM_006261.5:c.334C>A MANE Select NP_006252.4:p.Arg112=