Canonical Allele Identifier: CA354064689

Gene: TMEM39A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119431989C>A , CM000665.2:g.119431989C>A	GRCh38
NC_000003.11:g.119150836C>A , CM000665.1:g.119150836C>A	GRCh37
NC_000003.10:g.120633526C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018266.3:c.1459G>T MANE Select	NP_060736.1:p.Ala487Ser
ENST00000319172.10:c.1459G>T MANE Select	ENSP00000326063.5:p.Ala487Ser
NM_018266.2:c.1459G>T	NP_060736.1:p.Ala487Ser
NR_073506.1:n.1989G>T
NR_073506.2:n.1922G>T
ENST00000319172.9:c.1459G>T	ENSP00000326063.5:p.Ala487Ser
ENST00000438581.6:c.*1127G>T	ENSP00000402149.2:n.*1127G>T
ENST00000473684.5:c.554G>T	ENSP00000420432.1:n.554G>T
XM_005247578.1:c.*204G>T	XP_005247635.1:n.*204G>T
XM_005247578.2:c.*204G>T	XP_005247635.1:n.*204G>T
XM_006713687.1:c.1459G>T	XP_006713750.1:p.Ala487Ser
XM_006713687.2:c.1459G>T	XP_006713750.1:p.Ala487Ser
XM_017006788.2:c.1375G>T	XP_016862277.1:p.Ala459Ser
XR_001740197.2:n.2011G>T
XR_001740198.2:n.1927G>T