Canonical Allele Identifier: CA401028500

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517808G>A (hg19) ; chr17:g.75521727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521727G>A , CM000679.2:g.75521727G>A	GRCh38
NC_000017.10:g.73517808G>A , CM000679.1:g.73517808G>A	GRCh37
NC_000017.9:g.71029403G>A	NCBI36
NG_013041.1:g.10200G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.646G>A MANE Select	ENSP00000327487.6:p.Ala216Thr
ENST00000434205.8:c.343G>A	ENSP00000406559.4:p.Ala115Thr
ENST00000545228.3:c.646G>A	ENSP00000438169.3:p.Ala216Thr
ENST00000579449.2:n.445G>A
ENST00000580013.6:n.849G>A
ENST00000583818.2:c.700G>A	ENSP00000461928.2:n.700G>A
ENST00000679370.1:n.1227G>A
ENST00000679429.1:c.*104G>A	ENSP00000505403.1:n.*104G>A
ENST00000679443.1:n.715G>A
ENST00000679782.1:c.646G>A	ENSP00000505995.1:p.Ala216Thr
ENST00000679919.1:n.715G>A
ENST00000679928.1:c.*257G>A	ENSP00000506071.1:n.*257G>A
ENST00000680528.1:n.671G>A
ENST00000680999.1:c.646G>A	ENSP00000504984.1:p.Ala216Thr
ENST00000681282.1:c.675G>A	ENSP00000506339.1:p.Arg225=
ENST00000333213.10:c.646G>A	ENSP00000327487.6:p.Ala216Thr
ENST00000578415.1:c.606G>A
ENST00000583173.5:c.458+217G>A	ENSP00000463619.1:n.458+217G>A
ENST00000583818.1:c.595G>A	ENSP00000461928.1:n.595G>A
NM_207346.2:c.646G>A	NP_997229.2:p.Ala216Thr
XM_005257229.2:c.646G>A	XP_005257286.1:p.Ala216Thr
XM_006721821.2:c.343G>A	XP_006721884.1:p.Ala115Thr
XM_011524616.1:c.646G>A	XP_011522918.1:p.Ala216Thr
XM_011524617.1:c.646G>A	XP_011522919.1:p.Ala216Thr
XM_011524618.1:c.646G>A	XP_011522920.1:p.Ala216Thr
XR_243646.2:n.676G>A
XM_005257229.4:c.646G>A	XP_005257286.1:p.Ala216Thr
XR_243646.4:n.682G>A
NM_207346.3:c.646G>A MANE Select	NP_997229.2:p.Ala216Thr