Canonical Allele Identifier: CA5369518
Community Standard Title: NM_001033113.2(ENTPD8):c.1006G>A (p.Ala336Thr)
Gene: ENTPD8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137436057C>T , CM000671.2:g.137436057C>T GRCh38
NC_000009.11:g.140330509C>T , CM000671.1:g.140330509C>T GRCh37
NC_000009.10:g.139450330C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001033113.2:c.1006G>A MANE Select NP_001028285.1:p.Ala336Thr
ENST00000371506.7:c.1006G>A MANE Select ENSP00000360561.2:p.Ala336Thr
NM_001033113.1:c.1006G>A NP_001028285.1:p.Ala336Thr
NM_198585.2:c.1006G>A NP_940987.2:p.Ala336Thr
NM_198585.3:c.1006G>A NP_940987.2:p.Ala336Thr
ENST00000344119.6:c.1006G>A ENSP00000344089.2:p.Ala336Thr
ENST00000371506.6:c.1006G>A ENSP00000360561.2:p.Ala336Thr
ENST00000461823.1:n.1804G>A
ENST00000472938.5:c.1006G>A ENSP00000420531.1:p.Ala336Thr
XM_011518665.1:c.1330G>A XP_011516967.1:p.Ala444Thr
XM_011518665.2:c.1330G>A XP_011516967.1:p.Ala444Thr
XM_011518666.1:c.1330G>A XP_011516968.1:p.Ala444Thr
XM_011518666.2:c.1330G>A XP_011516968.1:p.Ala444Thr
XM_011518667.1:c.1006G>A XP_011516969.1:p.Ala336Thr
XM_011518668.1:c.625G>A XP_011516970.1:p.Ala209Thr