Canonical Allele Identifier: CA401031310

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524344-G-A
• MyVariant Identifiers: chr17:g.73520425G>A (hg19) ; chr17:g.75524344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524344G>A , CM000679.2:g.75524344G>A	GRCh38
NC_000017.10:g.73520425G>A , CM000679.1:g.73520425G>A	GRCh37
NC_000017.9:g.71032020G>A	NCBI36
NG_013041.1:g.12817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1513G>A MANE Select	ENSP00000327487.6:p.Val505Met
ENST00000434205.8:c.1210G>A	ENSP00000406559.4:p.Val404Met
ENST00000545228.3:c.*12G>A	ENSP00000438169.3:n.*12G>A
ENST00000577197.2:n.711G>A
ENST00000579449.2:n.2253G>A
ENST00000580013.6:n.2657G>A
ENST00000679370.1:n.3035G>A
ENST00000679429.1:c.*971G>A	ENSP00000505403.1:n.*971G>A
ENST00000679443.1:n.1582G>A
ENST00000679782.1:c.*212G>A	ENSP00000505995.1:n.*212G>A
ENST00000679919.1:n.1784G>A
ENST00000679928.1:c.*2065G>A	ENSP00000506071.1:n.*2065G>A
ENST00000680528.1:n.2479G>A
ENST00000680999.1:c.1726G>A	ENSP00000504984.1:p.Val576Met
ENST00000681282.1:c.*1700G>A	ENSP00000506339.1:n.*1700G>A
ENST00000333213.10:c.1513G>A	ENSP00000327487.6:p.Val505Met
ENST00000545228.2:c.790G>A
ENST00000577197.1:n.261G>A
ENST00000579449.1:n.710G>A
NM_207346.2:c.1513G>A	NP_997229.2:p.Val505Met
XM_005257229.2:c.*12G>A	XP_005257286.1:n.*12G>A
XM_006721821.2:c.*12G>A	XP_006721884.1:n.*12G>A
XM_011524616.1:c.*12G>A	XP_011522918.1:n.*12G>A
XM_011524617.1:c.*95G>A	XP_011522919.1:n.*95G>A
XM_011524618.1:c.1396G>A	XP_011522920.1:p.Val466Met
XR_243646.2:n.1745G>A
XM_005257229.4:c.*12G>A	XP_005257286.1:n.*12G>A
XR_001753015.1:n.54C>T
XR_001753016.1:n.55C>T
XR_243646.4:n.1751G>A
NM_207346.3:c.1513G>A MANE Select	NP_997229.2:p.Val505Met