Canonical Allele Identifier: CA353764704
Community Standard Title: NM_015412.4(NEPRO):c.625G>A (p.Ala209Thr)
Gene: NEPRO HGNC NCBI
GTPBP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.113011333C>T , CM000665.2:g.113011333C>T GRCh38
NC_000003.11:g.112730180C>T , CM000665.1:g.112730180C>T GRCh37
NC_000003.10:g.114212870C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015412.4:c.625G>A (NEPRO) MANE Select NP_056227.2:p.Ala209Thr
ENST00000314400.10:c.625G>A (NEPRO) MANE Select ENSP00000320251.5:p.Ala209Thr
NM_001319109.1:c.415G>A (NEPRO) NP_001306038.1:p.Ala139Thr
NM_001319109.2:c.415G>A (NEPRO) NP_001306038.1:p.Ala139Thr
NM_001319110.1:c.124G>A (NEPRO) NP_001306039.1:p.Ala42Thr
NM_001319110.2:c.124G>A (NEPRO) NP_001306039.1:p.Ala42Thr
NM_001319111.1:c.184-168G>A (NEPRO) NP_001306040.1:n.184-168G>A
NM_001319111.2:c.184-168G>A (NEPRO) NP_001306040.1:n.184-168G>A
NM_001319112.1:c.292G>A (NEPRO) NP_001306041.1:p.Ala98Thr
NM_001319112.2:c.292G>A (NEPRO) NP_001306041.1:p.Ala98Thr
NM_001319114.1:c.217G>A (NEPRO) NP_001306043.1:p.Ala73Thr
NM_001319114.2:c.217G>A (NEPRO) NP_001306043.1:p.Ala73Thr
NM_001319115.1:c.334G>A (NEPRO) NP_001306044.1:p.Ala112Thr
NM_001319115.2:c.334G>A (NEPRO) NP_001306044.1:p.Ala112Thr
NM_015412.3:c.625G>A (NEPRO) NP_056227.2:p.Ala209Thr
NR_027794.1:n.535G>A (NEPRO)
NR_027796.1:n.531G>A (NEPRO)
NR_134969.1:n.501G>A (NEPRO)
NR_134969.2:n.439G>A (NEPRO)
ENST00000314400.9:c.625G>A (NEPRO) ENSP00000320251.5:p.Ala209Thr
ENST00000383675.6:c.415G>A (NEPRO) ENSP00000373173.2:p.Ala139Thr
ENST00000460410.5:c.*363G>A (NEPRO) ENSP00000419462.1:n.*363G>A
ENST00000461381.5:c.415G>A (NEPRO) ENSP00000418309.1:p.Ala139Thr
ENST00000462295.5:c.*286-168G>A (NEPRO) ENSP00000417734.1:n.*286-168G>A
ENST00000469169.5:c.*317G>A (NEPRO) ENSP00000417968.1:n.*317G>A
ENST00000469809.5:c.*79+2616G>A (NEPRO) ENSP00000420577.1:n.*79+2616G>A
ENST00000472637.5:c.*363G>A (NEPRO) ENSP00000419716.1:n.*363G>A
ENST00000472705.5:c.107-2903G>A (NEPRO) ENSP00000418677.1:n.107-2903G>A
ENST00000473284.5:c.*359G>A (NEPRO) ENSP00000417983.1:n.*359G>A
ENST00000482229.1:n.204G>A (NEPRO)
ENST00000485330.5:c.*187-3044C>T (GTPBP8) ENSP00000418877.1:n.*187-3044C>T
ENST00000486271.5:n.1144G>A (NEPRO)
ENST00000489848.5:c.*149G>A (NEPRO) ENSP00000420471.1:n.*149G>A
ENST00000491121.1:c.*153G>A (NEPRO) ENSP00000418902.1:n.*153G>A
ENST00000494164.5:c.*149G>A (NEPRO) ENSP00000419174.1:n.*149G>A
ENST00000494575.5:n.485G>A (NEPRO)
ENST00000496206.5:c.416G>A (NEPRO) ENSP00000420036.1:n.416G>A
XM_005247273.1:c.415G>A (NEPRO) XP_005247330.1:p.Ala139Thr
XM_005247276.1:c.217G>A (NEPRO) XP_005247333.1:p.Ala73Thr
XM_005247276.2:c.217G>A (NEPRO) XP_005247333.1:p.Ala73Thr
XM_005247278.2:c.124G>A (NEPRO) XP_005247335.1:p.Ala42Thr
XM_011512635.1:c.184-168G>A (NEPRO) XP_011510937.1:n.184-168G>A
XM_011512635.2:c.184-168G>A (NEPRO) XP_011510937.1:n.184-168G>A
XM_011512636.1:c.184-168G>A (NEPRO) XP_011510938.1:n.184-168G>A
XM_011512636.2:c.184-168G>A (NEPRO) XP_011510938.1:n.184-168G>A
XM_011512637.1:c.184-168G>A (NEPRO) XP_011510939.1:n.184-168G>A
XM_011512638.1:c.184-168G>A (NEPRO) XP_011510940.1:n.184-168G>A
XM_011512638.2:c.184-168G>A (NEPRO) XP_011510940.1:n.184-168G>A
XM_017006102.2:c.625G>A (NEPRO) XP_016861591.1:p.Ala209Thr
XM_017006103.1:c.334G>A (NEPRO) XP_016861592.1:p.Ala112Thr
XR_241481.2:n.649G>A (NEPRO)
XR_241481.3:n.649G>A (NEPRO)
XR_241482.2:n.439G>A (NEPRO)