Canonical Allele Identifier: CA372492445

Gene: PUF60

Linked Data

• gnomAD v4: 8-143818209-C-G
• MyVariant Identifiers: chr8:g.143818209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818209C>G , CM000670.2:g.143818209C>G	GRCh38
NC_000008.9:g.144972367C>G	NCBI36
NG_030583.1:g.2171G>C
NG_033879.1:g.16178G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1285G>C
ENST00000526151.6:n.2642G>C
ENST00000526459.6:c.533G>C	ENSP00000432610.2:p.Gly178Ala
ENST00000527744.6:c.584G>C	ENSP00000436131.2:p.Gly195Ala
ENST00000531951.6:c.458G>C	ENSP00000515500.1:p.Gly153Ala
ENST00000532127.6:c.*432G>C	ENSP00000515484.1:n.*432G>C
ENST00000533162.2:c.698G>C	ENSP00000433403.2:p.Gly233Ala
ENST00000533362.2:c.662G>C	ENSP00000515502.1:p.Gly221Ala
ENST00000703744.1:n.1298G>C
ENST00000703803.1:n.735G>C
ENST00000703846.1:c.458G>C	ENSP00000515498.1:p.Gly153Ala
ENST00000703847.1:c.698G>C	ENSP00000515499.1:p.Gly233Ala
ENST00000703848.1:n.618G>C
ENST00000703849.1:c.458G>C	ENSP00000515501.1:p.Gly153Ala
ENST00000703850.1:c.662G>C	ENSP00000515503.1:p.Gly221Ala
ENST00000703851.1:n.507G>C
ENST00000703852.1:c.*510G>C	ENSP00000515504.1:n.*510G>C
ENST00000703853.1:n.501G>C
ENST00000703866.1:c.587G>C	ENSP00000515511.1:p.Gly196Ala
ENST00000526683.6:c.587G>C MANE Select	ENSP00000434359.1:p.Gly196Ala
ENST00000313352.11:c.407G>C	ENSP00000322016.7:p.Gly136Ala
ENST00000349157.10:c.536G>C	ENSP00000322036.7:p.Gly179Ala
ENST00000453551.6:c.458G>C	ENSP00000402953.2:p.Gly153Ala
ENST00000456095.6:c.500G>C	ENSP00000395417.2:p.Gly167Ala
ENST00000524570.5:n.1273G>C
ENST00000526459.5:c.533G>C	ENSP00000432610.1:p.Gly178Ala
ENST00000526683.5:c.587G>C	ENSP00000434359.1:p.Gly196Ala
ENST00000527197.5:c.449G>C	ENSP00000431960.1:p.Gly150Ala
ENST00000527744.5:c.580G>C
ENST00000528320.5:n.599G>C
ENST00000528999.5:n.318G>C
ENST00000529693.1:n.668G>C
ENST00000529999.5:c.647G>C	ENSP00000434863.1:p.Gly216Ala
ENST00000531897.5:c.647G>C	ENSP00000437309.1:p.Gly216Ala
ENST00000531951.5:n.747G>C
ENST00000532884.1:c.181G>C
NM_001136033.2:c.458G>C	NP_001129505.1:p.Gly153Ala
NM_001271096.1:c.533G>C	NP_001258025.1:p.Gly178Ala
NM_001271097.1:c.449G>C	NP_001258026.1:p.Gly150Ala
NM_001271098.1:c.584G>C	NP_001258027.1:p.Gly195Ala
NM_001271099.1:c.500G>C	NP_001258028.1:p.Gly167Ala
NM_001271100.1:c.407G>C	NP_001258029.1:p.Gly136Ala
NM_014281.4:c.536G>C	NP_055096.2:p.Gly179Ala
NM_078480.2:c.587G>C	NP_510965.1:p.Gly196Ala
XM_011516929.1:c.698G>C	XP_011515231.1:p.Gly233Ala
XM_011516930.1:c.647G>C	XP_011515232.1:p.Gly216Ala
NM_001362895.1:c.698G>C	NP_001349824.1:p.Gly233Ala
NM_001362896.1:c.698G>C	NP_001349825.1:p.Gly233Ala
NM_001362897.1:c.647G>C	NP_001349826.1:p.Gly216Ala
XM_017013234.1:c.698G>C	XP_016868723.1:p.Gly233Ala
XM_017013235.1:c.662G>C	XP_016868724.1:p.Gly221Ala
XM_017013236.1:c.647G>C	XP_016868725.1:p.Gly216Ala
XM_017013239.1:c.458G>C	XP_016868728.1:p.Gly153Ala
XM_017013240.1:c.407G>C	XP_016868729.1:p.Gly136Ala
NM_001136033.3:c.458G>C	NP_001129505.1:p.Gly153Ala
NM_001271096.2:c.533G>C	NP_001258025.1:p.Gly178Ala
NM_001271097.2:c.449G>C	NP_001258026.1:p.Gly150Ala
NM_001271098.2:c.584G>C	NP_001258027.1:p.Gly195Ala
NM_001271099.2:c.500G>C	NP_001258028.1:p.Gly167Ala
NM_001271100.2:c.407G>C	NP_001258029.1:p.Gly136Ala
NM_001362895.2:c.698G>C	NP_001349824.1:p.Gly233Ala
NM_001362896.2:c.698G>C	NP_001349825.1:p.Gly233Ala
NM_001362897.2:c.647G>C	NP_001349826.1:p.Gly216Ala
NM_014281.5:c.536G>C	NP_055096.2:p.Gly179Ala
NM_078480.3:c.587G>C MANE Select	NP_510965.1:p.Gly196Ala