Canonical Allele Identifier: CA3587636

Gene: PROP1

Linked Data

• ClinVar Variation Id: 353016
• ClinVar RCV Id: RCV000343439 ; RCV000454511 ; RCV001511719
• dbSNP Id: rs4072924
• ExAC: 5:177422823 C / T
• gnomAD v2: 5-177422823-C-T
• gnomAD v3: 5-177995822-C-T
• gnomAD v4: 5-177995822-C-T
• MyVariant Identifiers: chr5:g.177422823C>T (hg19) ; chr5:g.177995822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177995822C>T , CM000667.2:g.177995822C>T	GRCh38
NC_000005.9:g.177422823C>T , CM000667.1:g.177422823C>T	GRCh37
NC_000005.8:g.177355429C>T	NCBI36
NG_015889.1:g.5421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.109+3G>A MANE Select	ENSP00000311290.2:n.109+3G>A
NM_006261.4:c.109+3G>A	NP_006252.3:n.109+3G>A
NM_006261.5:c.109+3G>A MANE Select	NP_006252.4:n.109+3G>A