Canonical Allele Identifier: CA401029518

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73518106T>A (hg19) ; chr17:g.75522025T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522025T>A , CM000679.2:g.75522025T>A	GRCh38
NC_000017.10:g.73518106T>A , CM000679.1:g.73518106T>A	GRCh37
NC_000017.9:g.71029701T>A	NCBI36
NG_013041.1:g.10498T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.944T>A MANE Select	ENSP00000327487.6:p.Leu315Gln
ENST00000434205.8:c.641T>A	ENSP00000406559.4:p.Leu214Gln
ENST00000545228.3:c.944T>A	ENSP00000438169.3:p.Leu315Gln
ENST00000579449.2:n.743T>A
ENST00000580013.6:n.1147T>A
ENST00000679370.1:n.1525T>A
ENST00000679429.1:c.*402T>A	ENSP00000505403.1:n.*402T>A
ENST00000679443.1:n.1013T>A
ENST00000679782.1:c.944T>A	ENSP00000505995.1:p.Leu315Gln
ENST00000679919.1:n.1013T>A
ENST00000679928.1:c.*555T>A	ENSP00000506071.1:n.*555T>A
ENST00000680528.1:n.969T>A
ENST00000680999.1:c.944T>A	ENSP00000504984.1:p.Leu315Gln
ENST00000681282.1:c.*190T>A	ENSP00000506339.1:n.*190T>A
ENST00000333213.10:c.944T>A	ENSP00000327487.6:p.Leu315Gln
ENST00000545228.2:c.33T>A
ENST00000578415.1:c.904T>A
ENST00000583173.5:c.477T>A	ENSP00000463619.1:p.Ser159=
NM_207346.2:c.944T>A	NP_997229.2:p.Leu315Gln
XM_005257229.2:c.944T>A	XP_005257286.1:p.Leu315Gln
XM_006721821.2:c.641T>A	XP_006721884.1:p.Leu214Gln
XM_011524616.1:c.944T>A	XP_011522918.1:p.Leu315Gln
XM_011524617.1:c.944T>A	XP_011522919.1:p.Leu315Gln
XM_011524618.1:c.944T>A	XP_011522920.1:p.Leu315Gln
XR_243646.2:n.974T>A
XM_005257229.4:c.944T>A	XP_005257286.1:p.Leu315Gln
XR_243646.4:n.980T>A
NM_207346.3:c.944T>A MANE Select	NP_997229.2:p.Leu315Gln