Canonical Allele Identifier: CA116886
Community Standard Title: NM_001002010.5(NT5C3A):c.694-1G>T
Gene: NT5C3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33015871C>A , CM000669.2:g.33015871C>A GRCh38
NC_000007.13:g.33055483C>A , CM000669.1:g.33055483C>A GRCh37
NC_000007.12:g.33022008C>A NCBI36
NG_015800.1:g.51927G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001002010.5:c.694-1G>T MANE Select NP_001002010.2:n.694-1G>T
ENST00000610140.7:c.694-1G>T MANE Select ENSP00000476480.2:n.694-1G>T
NM_001002009.2:c.592-1G>T NP_001002009.1:n.592-1G>T
NM_001002009.3:c.592-1G>T NP_001002009.1:n.592-1G>T
NM_001002010.2:c.709-1G>T NP_001002010.1:n.709-1G>T
NM_001002010.3:c.694-1G>T NP_001002010.2:n.694-1G>T
NM_001166118.2:c.556-1G>T NP_001159590.1:n.556-1G>T
NM_001166118.3:c.556-1G>T NP_001159590.1:n.556-1G>T
NM_001356996.1:c.556-1G>T NP_001343925.1:n.556-1G>T
NM_001356996.2:c.556-1G>T NP_001343925.1:n.556-1G>T
NM_001356996.3:c.556-1G>T NP_001343925.1:n.556-1G>T
NM_001374335.1:c.595-1G>T NP_001361264.1:n.595-1G>T
NM_001374336.1:c.556-1G>T NP_001361265.1:n.556-1G>T
NM_001374337.1:c.556-1G>T NP_001361266.1:n.556-1G>T
NM_001374338.1:c.694-1040G>T NP_001361267.1:n.694-1040G>T
NM_001374339.1:c.493-1G>T NP_001361268.1:n.493-1G>T
NM_016489.12:c.592-1G>T NP_057573.2:n.592-1G>T
NM_016489.13:c.592-1G>T NP_057573.2:n.592-1G>T
NM_016489.14:c.592-1G>T NP_057573.2:n.592-1G>T
ENST00000242210.11:c.709-1G>T ENSP00000242210.7:n.709-1G>T
ENST00000381626.6:c.556-1G>T ENSP00000371039.2:n.556-1G>T
ENST00000396152.6:c.592-1G>T ENSP00000379456.2:n.592-1G>T
ENST00000405342.5:c.592-1G>T ENSP00000385261.1:n.592-1G>T
ENST00000409467.5:c.556-1G>T ENSP00000387166.1:n.556-1G>T
ENST00000409467.6:c.556-1G>T ENSP00000387166.1:n.556-1G>T
ENST00000456458.5:c.*599-1G>T ENSP00000389676.2:n.*599-1G>T
ENST00000473083.1:n.56G>T
ENST00000610140.5:c.694-1G>T ENSP00000476480.1:n.694-1G>T
ENST00000620705.4:c.709-1G>T ENSP00000484415.1:n.709-1G>T
ENST00000643244.1:c.592-1G>T ENSP00000496364.1:n.592-1G>T
XM_011515409.1:c.556-1G>T XP_011513711.1:n.556-1G>T