Canonical Allele Identifier: CA401031553

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524411-G-T
• MyVariant Identifiers: chr17:g.73520492G>T (hg19) ; chr17:g.75524411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524411G>T , CM000679.2:g.75524411G>T	GRCh38
NC_000017.10:g.73520492G>T , CM000679.1:g.73520492G>T	GRCh37
NC_000017.9:g.71032087G>T	NCBI36
NG_013041.1:g.12884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1580G>T MANE Select	ENSP00000327487.6:p.Ter527Leu
ENST00000434205.8:c.1277G>T	ENSP00000406559.4:p.Ter426Leu
ENST00000545228.3:c.*79G>T	ENSP00000438169.3:n.*79G>T
ENST00000577197.2:n.778G>T
ENST00000579449.2:n.2320G>T
ENST00000580013.6:n.2724G>T
ENST00000679370.1:n.3102G>T
ENST00000679429.1:c.*1038G>T	ENSP00000505403.1:n.*1038G>T
ENST00000679443.1:n.1649G>T
ENST00000679782.1:c.*279G>T	ENSP00000505995.1:n.*279G>T
ENST00000679919.1:n.1851G>T
ENST00000679928.1:c.*2132G>T	ENSP00000506071.1:n.*2132G>T
ENST00000680528.1:n.2546G>T
ENST00000680999.1:c.1793G>T	ENSP00000504984.1:p.Ter598Leu
ENST00000681282.1:c.*1767G>T	ENSP00000506339.1:n.*1767G>T
ENST00000333213.10:c.1580G>T	ENSP00000327487.6:p.Ter527Leu
ENST00000545228.2:c.857G>T
ENST00000577197.1:n.328G>T
ENST00000579449.1:n.777G>T
NM_207346.2:c.1580G>T	NP_997229.2:p.Ter527Leu
XM_005257229.2:c.*79G>T	XP_005257286.1:n.*79G>T
XM_006721821.2:c.*79G>T	XP_006721884.1:n.*79G>T
XM_011524616.1:c.*79G>T	XP_011522918.1:n.*79G>T
XM_011524618.1:c.1463G>T	XP_011522920.1:p.Ter488Leu
XR_243646.2:n.1812G>T
XM_005257229.4:c.*79G>T	XP_005257286.1:n.*79G>T
XR_243646.4:n.1818G>T
NM_207346.3:c.1580G>T MANE Select	NP_997229.2:p.Ter527Leu