Canonical Allele Identifier: CA2682336284
Gene: NT5C3A HGNC NCBI

Linked Data

gnomAD v4: 7-33021230-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33021230A>G , CM000669.2:g.33021230A>G GRCh38
NC_000007.13:g.33060842A>G , CM000669.1:g.33060842A>G GRCh37
NC_000007.12:g.33027367A>G NCBI36
NG_015800.1:g.46568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409467.6:c.302+42T>C ENSP00000387166.1:n.302+42T>C
ENST00000610140.7:c.440+42T>C MANE Select ENSP00000476480.2:n.440+42T>C
ENST00000643244.1:c.338+42T>C ENSP00000496364.1:n.338+42T>C
ENST00000242210.11:c.455+42T>C ENSP00000242210.7:n.455+42T>C
ENST00000381626.6:c.302+42T>C ENSP00000371039.2:n.302+42T>C
ENST00000396152.6:c.338+42T>C ENSP00000379456.2:n.338+42T>C
ENST00000405342.5:c.338+42T>C ENSP00000385261.1:n.338+42T>C
ENST00000409467.5:c.302+42T>C ENSP00000387166.1:n.302+42T>C
ENST00000409787.4:c.338+42T>C ENSP00000387205.1:n.338+42T>C
ENST00000456458.5:c.*345+42T>C ENSP00000389676.2:n.*345+42T>C
ENST00000610140.5:c.440+42T>C ENSP00000476480.1:n.440+42T>C
ENST00000620705.4:c.455+42T>C ENSP00000484415.1:n.455+42T>C
NM_001002009.2:c.338+42T>C NP_001002009.1:n.338+42T>C
NM_001002010.2:c.455+42T>C NP_001002010.1:n.455+42T>C
NM_001166118.2:c.302+42T>C NP_001159590.1:n.302+42T>C
NM_016489.12:c.338+42T>C NP_057573.2:n.338+42T>C
XM_011515409.1:c.302+42T>C XP_011513711.1:n.302+42T>C
NM_001002010.3:c.440+42T>C NP_001002010.2:n.440+42T>C
NM_001356996.1:c.302+42T>C NP_001343925.1:n.302+42T>C
NM_001002009.3:c.338+42T>C NP_001002009.1:n.338+42T>C
NM_001002010.5:c.440+42T>C MANE Select NP_001002010.2:n.440+42T>C
NM_001166118.3:c.302+42T>C NP_001159590.1:n.302+42T>C
NM_001356996.2:c.302+42T>C NP_001343925.1:n.302+42T>C
NM_001374335.1:c.341+42T>C NP_001361264.1:n.341+42T>C
NM_001374336.1:c.302+42T>C NP_001361265.1:n.302+42T>C
NM_001374337.1:c.302+42T>C NP_001361266.1:n.302+42T>C
NM_001374338.1:c.440+42T>C NP_001361267.1:n.440+42T>C
NM_001374339.1:c.239+42T>C NP_001361268.1:n.239+42T>C
NM_016489.13:c.338+42T>C NP_057573.2:n.338+42T>C
NM_001356996.3:c.302+42T>C NP_001343925.1:n.302+42T>C
NM_016489.14:c.338+42T>C NP_057573.2:n.338+42T>C