Canonical Allele Identifier: CA775078784

Gene: TSEN54

Linked Data

• dbSNP Id: rs1270308330
• gnomAD v4: 17-75524699-C-T
• MyVariant Identifiers: chr17:g.73520780C>T (hg19) ; chr17:g.75524699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524699C>T , CM000679.2:g.75524699C>T	GRCh38
NC_000017.10:g.73520780C>T , CM000679.1:g.73520780C>T	GRCh37
NC_000017.9:g.71032375C>T	NCBI36
NG_013041.1:g.13172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*287C>T MANE Select	ENSP00000327487.6:n.*287C>T
ENST00000434205.8:c.*287C>T	ENSP00000406559.4:n.*287C>T
ENST00000577197.2:n.1066C>T
ENST00000579449.2:n.2608C>T
ENST00000580013.6:n.3012C>T
ENST00000679370.1:n.3390C>T
ENST00000679429.1:c.*1326C>T	ENSP00000505403.1:n.*1326C>T
ENST00000679928.1:c.*2420C>T	ENSP00000506071.1:n.*2420C>T
ENST00000681282.1:c.*2055C>T	ENSP00000506339.1:n.*2055C>T
ENST00000333213.10:c.*287C>T	ENSP00000327487.6:n.*287C>T
ENST00000577197.1:n.616C>T
NM_207346.2:c.*287C>T	NP_997229.2:n.*287C>T
XM_005257229.2:c.*367C>T	XP_005257286.1:n.*367C>T
XM_006721821.2:c.*367C>T	XP_006721884.1:n.*367C>T
XM_011524616.1:c.*367C>T	XP_011522918.1:n.*367C>T
XM_011524618.1:c.*287C>T	XP_011522920.1:n.*287C>T
XR_243646.2:n.2100C>T
XM_005257229.4:c.*367C>T	XP_005257286.1:n.*367C>T
XR_243646.4:n.2106C>T
NM_207346.3:c.*287C>T MANE Select	NP_997229.2:n.*287C>T