Canonical Allele Identifier: CA116891
Community Standard Title: NM_001002010.5(NT5C3A):c.486dup (p.Ala163SerfsTer2)
Gene: NT5C3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33019682dup , CM000669.2:g.33019682dup GRCh38
NC_000007.13:g.33059294dup , CM000669.1:g.33059294dup GRCh37
NC_000007.12:g.33025819dup NCBI36
NG_015800.1:g.48119dup

Transcript Alleles

HGVS Amino-acid Change
NM_001002010.5:c.486dup MANE Select NP_001002010.2:p.Ala163SerfsTer2
ENST00000610140.7:c.486dup MANE Select ENSP00000476480.2:p.Ala163SerfsTer2
NM_001002009.2:c.384dup NP_001002009.1:p.Ala129SerfsTer2
NM_001002009.3:c.384dup NP_001002009.1:p.Ala129SerfsTer2
NM_001002010.2:c.501dup NP_001002010.1:p.Ala168SerfsTer2
NM_001002010.3:c.486dup NP_001002010.2:p.Ala163SerfsTer2
NM_001166118.2:c.348dup NP_001159590.1:p.Ala117SerfsTer2
NM_001166118.3:c.348dup NP_001159590.1:p.Ala117SerfsTer2
NM_001356996.1:c.348dup NP_001343925.1:p.Ala117SerfsTer2
NM_001356996.2:c.348dup NP_001343925.1:p.Ala117SerfsTer2
NM_001356996.3:c.348dup NP_001343925.1:p.Ala117SerfsTer2
NM_001374335.1:c.387dup NP_001361264.1:p.Ala130SerfsTer2
NM_001374336.1:c.348dup NP_001361265.1:p.Ala117SerfsTer2
NM_001374337.1:c.348dup NP_001361266.1:p.Ala117SerfsTer2
NM_001374338.1:c.486dup NP_001361267.1:p.Ala163SerfsTer2
NM_001374339.1:c.285dup NP_001361268.1:p.Ala96SerfsTer2
NM_016489.12:c.384dup NP_057573.2:p.Ala129SerfsTer2
NM_016489.13:c.384dup NP_057573.2:p.Ala129SerfsTer2
NM_016489.14:c.384dup NP_057573.2:p.Ala129SerfsTer2
ENST00000242210.11:c.501dup ENSP00000242210.7:p.Ala168SerfsTer2
ENST00000381626.6:c.348dup ENSP00000371039.2:p.Ala117SerfsTer2
ENST00000396152.6:c.384dup ENSP00000379456.2:p.Ala129SerfsTer2
ENST00000405342.5:c.384dup ENSP00000385261.1:p.Ala129SerfsTer2
ENST00000409467.5:c.348dup ENSP00000387166.1:p.Ala117SerfsTer2
ENST00000409467.6:c.348dup ENSP00000387166.1:p.Ala117SerfsTer2
ENST00000409787.4:c.384dup ENSP00000387205.1:p.Ala129SerfsTer2
ENST00000456458.5:c.*391dup ENSP00000389676.2:n.*391dup
ENST00000610140.5:c.486dup ENSP00000476480.1:p.Ala163SerfsTer2
ENST00000620705.4:c.501dup ENSP00000484415.1:p.Ala168SerfsTer2
ENST00000643244.1:c.384dup ENSP00000496364.1:p.Ala129SerfsTer2
XM_011515409.1:c.348dup XP_011513711.1:p.Ala117SerfsTer2