Canonical Allele Identifier: CA627406664

Gene: TSEN54

Linked Data

• dbSNP Id: rs1205116665
• gnomAD v2: 17-73520626-G-T
• gnomAD v4: 17-75524545-G-T
• MyVariant Identifiers: chr17:g.73520626G>T (hg19) ; chr17:g.75524545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524545G>T , CM000679.2:g.75524545G>T	GRCh38
NC_000017.10:g.73520626G>T , CM000679.1:g.73520626G>T	GRCh37
NC_000017.9:g.71032221G>T	NCBI36
NG_013041.1:g.13018G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*133G>T MANE Select	ENSP00000327487.6:n.*133G>T
ENST00000434205.8:c.*133G>T	ENSP00000406559.4:n.*133G>T
ENST00000545228.3:c.*213G>T	ENSP00000438169.3:n.*213G>T
ENST00000577197.2:n.912G>T
ENST00000579449.2:n.2454G>T
ENST00000580013.6:n.2858G>T
ENST00000679370.1:n.3236G>T
ENST00000679429.1:c.*1172G>T	ENSP00000505403.1:n.*1172G>T
ENST00000679443.1:n.1783G>T
ENST00000679782.1:c.*413G>T	ENSP00000505995.1:n.*413G>T
ENST00000679919.1:n.1985G>T
ENST00000679928.1:c.*2266G>T	ENSP00000506071.1:n.*2266G>T
ENST00000680999.1:c.*133G>T	ENSP00000504984.1:n.*133G>T
ENST00000681282.1:c.*1901G>T	ENSP00000506339.1:n.*1901G>T
ENST00000333213.10:c.*133G>T	ENSP00000327487.6:n.*133G>T
ENST00000545228.2:c.991G>T
ENST00000577197.1:n.462G>T
NM_207346.2:c.*133G>T	NP_997229.2:n.*133G>T
XM_005257229.2:c.*213G>T	XP_005257286.1:n.*213G>T
XM_006721821.2:c.*213G>T	XP_006721884.1:n.*213G>T
XM_011524616.1:c.*213G>T	XP_011522918.1:n.*213G>T
XM_011524618.1:c.*133G>T	XP_011522920.1:n.*133G>T
XR_243646.2:n.1946G>T
XM_005257229.4:c.*213G>T	XP_005257286.1:n.*213G>T
XR_243646.4:n.1952G>T
NM_207346.3:c.*133G>T MANE Select	NP_997229.2:n.*133G>T