Canonical Allele Identifier: CA13369071

Gene: PHRF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.589564T>C , CM000673.2:g.589564T>C	GRCh38
NC_000011.9:g.589564T>C , CM000673.1:g.589564T>C	GRCh37
NC_000011.8:g.579564T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264555.10:c.421-1820T>C MANE Select	ENSP00000264555.5:n.421-1820T>C
ENST00000416188.3:c.421-1820T>C	ENSP00000410626.2:n.421-1820T>C
ENST00000264555.9:c.421-1820T>C	ENSP00000264555.5:n.421-1820T>C
ENST00000413872.6:c.418-1820T>C	ENSP00000388589.2:n.418-1820T>C
ENST00000416188.2:c.421-1820T>C	ENSP00000410626.2:n.421-1820T>C
ENST00000533464.5:c.409-1820T>C	ENSP00000431870.1:n.409-1820T>C
ENST00000534320.5:c.421-1820T>C	ENSP00000435360.1:n.421-1820T>C
NM_001286581.1:c.421-1820T>C	NP_001273510.1:n.421-1820T>C
NM_001286582.1:c.418-1820T>C	NP_001273511.1:n.418-1820T>C
NM_001286583.1:c.409-1820T>C	NP_001273512.1:n.409-1820T>C
NM_020901.3:c.421-1820T>C	NP_065952.2:n.421-1820T>C
XM_005253025.3:c.418-1820T>C	XP_005253082.1:n.418-1820T>C
XM_005253027.2:c.412-1820T>C	XP_005253084.1:n.412-1820T>C
XM_011520236.1:c.421-1820T>C	XP_011518538.1:n.421-1820T>C
XM_011520237.1:c.301-1820T>C	XP_011518539.1:n.301-1820T>C
XM_005253025.5:c.418-1820T>C	XP_005253082.1:n.418-1820T>C
XM_005253027.3:c.412-1820T>C	XP_005253084.1:n.412-1820T>C
XM_011520236.3:c.421-1820T>C	XP_011518538.1:n.421-1820T>C
XM_011520237.3:c.301-1820T>C	XP_011518539.1:n.301-1820T>C
NM_001286581.2:c.421-1820T>C MANE Select	NP_001273510.1:n.421-1820T>C
NM_001286582.2:c.418-1820T>C	NP_001273511.1:n.418-1820T>C
NM_001286583.2:c.409-1820T>C	NP_001273512.1:n.409-1820T>C
NM_020901.4:c.421-1820T>C	NP_065952.2:n.421-1820T>C