Canonical Allele Identifier: CA362378277
Gene: PROP1 HGNC NCBI

Linked Data

gnomAD v4: 5-177992737-C-A
MyVariant Identifiers: chr5:g.177419738C>A (hg19) chr5:g.177992737C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992737C>A , CM000667.2:g.177992737C>A GRCh38
NC_000005.9:g.177419738C>A , CM000667.1:g.177419738C>A GRCh37
NC_000005.8:g.177352344C>A NCBI36
NG_015889.1:g.8506G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.653G>T MANE Select ENSP00000311290.2:p.Ser218Ile
NM_006261.4:c.653G>T NP_006252.3:p.Ser218Ile
NM_006261.5:c.653G>T MANE Select NP_006252.4:p.Ser218Ile
Search 100 bp 5'
Search 100 bp 3'