Canonical Allele Identifier: CA4213534
Community Standard Title: NM_001002010.5(NT5C3A):c.139-4T>G
Gene: NT5C3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33026919A>C , CM000669.2:g.33026919A>C GRCh38
NC_000007.13:g.33066531A>C , CM000669.1:g.33066531A>C GRCh37
NC_000007.12:g.33033056A>C NCBI36
NG_015800.1:g.40879T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001002010.5:c.139-4T>G MANE Select NP_001002010.2:n.139-4T>G
ENST00000610140.7:c.139-4T>G MANE Select ENSP00000476480.2:n.139-4T>G
NM_001002009.2:c.37-4T>G NP_001002009.1:n.37-4T>G
NM_001002009.3:c.37-4T>G NP_001002009.1:n.37-4T>G
NM_001002010.2:c.154-4T>G NP_001002010.1:n.154-4T>G
NM_001002010.3:c.139-4T>G NP_001002010.2:n.139-4T>G
NM_001166118.2:c.1-4T>G NP_001159590.1:n.1-4T>G
NM_001166118.3:c.1-4T>G NP_001159590.1:n.1-4T>G
NM_001356996.1:c.1-4T>G NP_001343925.1:n.1-4T>G
NM_001356996.2:c.1-4T>G NP_001343925.1:n.1-4T>G
NM_001356996.3:c.1-4T>G NP_001343925.1:n.1-4T>G
NM_001374335.1:c.139-2811T>G NP_001361264.1:n.139-2811T>G
NM_001374336.1:c.1-4T>G NP_001361265.1:n.1-4T>G
NM_001374337.1:c.1-4T>G NP_001361266.1:n.1-4T>G
NM_001374338.1:c.139-4T>G NP_001361267.1:n.139-4T>G
NM_001374339.1:c.37-2811T>G NP_001361268.1:n.37-2811T>G
NM_016489.12:c.37-4T>G NP_057573.2:n.37-4T>G
NM_016489.13:c.37-4T>G NP_057573.2:n.37-4T>G
NM_016489.14:c.37-4T>G NP_057573.2:n.37-4T>G
ENST00000242210.11:c.154-4T>G ENSP00000242210.7:n.154-4T>G
ENST00000381626.6:c.1-4T>G ENSP00000371039.2:n.1-4T>G
ENST00000396152.6:c.37-4T>G ENSP00000379456.2:n.37-4T>G
ENST00000405342.5:c.37-4T>G ENSP00000385261.1:n.37-4T>G
ENST00000409467.5:c.1-4T>G ENSP00000387166.1:n.1-4T>G
ENST00000409467.6:c.1-4T>G ENSP00000387166.1:n.1-4T>G
ENST00000409787.4:c.37-4T>G ENSP00000387205.1:n.37-4T>G
ENST00000449201.5:c.1-4T>G ENSP00000401161.1:n.1-4T>G
ENST00000456458.5:c.*44-4T>G ENSP00000389676.2:n.*44-4T>G
ENST00000461851.1:n.115T>G
ENST00000461851.2:n.115T>G
ENST00000464840.5:n.92-4T>G
ENST00000610140.5:c.139-4T>G ENSP00000476480.1:n.139-4T>G
ENST00000620705.4:c.154-4T>G ENSP00000484415.1:n.154-4T>G
ENST00000643244.1:c.37-4T>G ENSP00000496364.1:n.37-4T>G
XM_011515409.1:c.1-4T>G XP_011513711.1:n.1-4T>G