Canonical Allele Identifier: CA401031258

Gene: TSEN54

Linked Data

• dbSNP Id: rs759701548
• gnomAD v4: 17-75524327-C-T
• MyVariant Identifiers: chr17:g.73520408C>T (hg19) ; chr17:g.75524327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524327C>T , CM000679.2:g.75524327C>T	GRCh38
NC_000017.10:g.73520408C>T , CM000679.1:g.73520408C>T	GRCh37
NC_000017.9:g.71032003C>T	NCBI36
NG_013041.1:g.12800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1496C>T MANE Select	ENSP00000327487.6:p.Pro499Leu
ENST00000434205.8:c.1193C>T	ENSP00000406559.4:p.Pro398Leu
ENST00000545228.3:c.1684C>T	ENSP00000438169.3:p.Leu562Phe
ENST00000577197.2:n.694C>T
ENST00000579449.2:n.2236C>T
ENST00000580013.6:n.2640C>T
ENST00000679370.1:n.3018C>T
ENST00000679429.1:c.*954C>T	ENSP00000505403.1:n.*954C>T
ENST00000679443.1:n.1565C>T
ENST00000679782.1:c.*195C>T	ENSP00000505995.1:n.*195C>T
ENST00000679919.1:n.1767C>T
ENST00000679928.1:c.*2048C>T	ENSP00000506071.1:n.*2048C>T
ENST00000680528.1:n.2462C>T
ENST00000680999.1:c.1709C>T	ENSP00000504984.1:p.Pro570Leu
ENST00000681282.1:c.*1683C>T	ENSP00000506339.1:n.*1683C>T
ENST00000333213.10:c.1496C>T	ENSP00000327487.6:p.Pro499Leu
ENST00000545228.2:c.773C>T
ENST00000577197.1:n.244C>T
ENST00000579449.1:n.693C>T
NM_207346.2:c.1496C>T	NP_997229.2:p.Pro499Leu
XM_005257229.2:c.1684C>T	XP_005257286.1:p.Leu562Phe
XM_006721821.2:c.1381C>T	XP_006721884.1:p.Leu461Phe
XM_011524616.1:c.1567C>T	XP_011522918.1:p.Leu523Phe
XM_011524617.1:c.*78C>T	XP_011522919.1:n.*78C>T
XM_011524618.1:c.1379C>T	XP_011522920.1:p.Pro460Leu
XR_243646.2:n.1728C>T
XM_005257229.4:c.1684C>T	XP_005257286.1:p.Leu562Phe
XR_001753015.1:n.71G>A
XR_001753016.1:n.72G>A
XR_243646.4:n.1734C>T
NM_207346.3:c.1496C>T MANE Select	NP_997229.2:p.Pro499Leu