Canonical Allele Identifier: CA401031247

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520405T>A (hg19) ; chr17:g.75524324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524324T>A , CM000679.2:g.75524324T>A	GRCh38
NC_000017.10:g.73520405T>A , CM000679.1:g.73520405T>A	GRCh37
NC_000017.9:g.71032000T>A	NCBI36
NG_013041.1:g.12797T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1493T>A MANE Select	ENSP00000327487.6:p.Val498Asp
ENST00000434205.8:c.1190T>A	ENSP00000406559.4:p.Val397Asp
ENST00000545228.3:c.1681T>A	ENSP00000438169.3:p.Ser561Thr
ENST00000577197.2:n.691T>A
ENST00000579449.2:n.2233T>A
ENST00000580013.6:n.2637T>A
ENST00000679370.1:n.3015T>A
ENST00000679429.1:c.*951T>A	ENSP00000505403.1:n.*951T>A
ENST00000679443.1:n.1562T>A
ENST00000679782.1:c.*192T>A	ENSP00000505995.1:n.*192T>A
ENST00000679919.1:n.1764T>A
ENST00000679928.1:c.*2045T>A	ENSP00000506071.1:n.*2045T>A
ENST00000680528.1:n.2459T>A
ENST00000680999.1:c.1706T>A	ENSP00000504984.1:p.Val569Asp
ENST00000681282.1:c.*1680T>A	ENSP00000506339.1:n.*1680T>A
ENST00000333213.10:c.1493T>A	ENSP00000327487.6:p.Val498Asp
ENST00000545228.2:c.770T>A
ENST00000577197.1:n.241T>A
ENST00000579449.1:n.690T>A
NM_207346.2:c.1493T>A	NP_997229.2:p.Val498Asp
XM_005257229.2:c.1681T>A	XP_005257286.1:p.Ser561Thr
XM_006721821.2:c.1378T>A	XP_006721884.1:p.Ser460Thr
XM_011524616.1:c.1564T>A	XP_011522918.1:p.Ser522Thr
XM_011524617.1:c.*75T>A	XP_011522919.1:n.*75T>A
XM_011524618.1:c.1376T>A	XP_011522920.1:p.Val459Asp
XR_243646.2:n.1725T>A
XM_005257229.4:c.1681T>A	XP_005257286.1:p.Ser561Thr
XR_001753015.1:n.74A>T
XR_001753016.1:n.75A>T
XR_243646.4:n.1731T>A
NM_207346.3:c.1493T>A MANE Select	NP_997229.2:p.Val498Asp