Canonical Allele Identifier: CA775078778

Gene: TSEN54

Linked Data

• dbSNP Id: rs1213108499
• gnomAD v3: 17-75524695-C-T
• gnomAD v4: 17-75524695-C-T
• MyVariant Identifiers: chr17:g.73520776C>T (hg19) ; chr17:g.75524695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524695C>T , CM000679.2:g.75524695C>T	GRCh38
NC_000017.10:g.73520776C>T , CM000679.1:g.73520776C>T	GRCh37
NC_000017.9:g.71032371C>T	NCBI36
NG_013041.1:g.13168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*283C>T MANE Select	ENSP00000327487.6:n.*283C>T
ENST00000434205.8:c.*283C>T	ENSP00000406559.4:n.*283C>T
ENST00000577197.2:n.1062C>T
ENST00000579449.2:n.2604C>T
ENST00000580013.6:n.3008C>T
ENST00000679370.1:n.3386C>T
ENST00000679429.1:c.*1322C>T	ENSP00000505403.1:n.*1322C>T
ENST00000679443.1:n.1933C>T
ENST00000679782.1:c.*563C>T	ENSP00000505995.1:n.*563C>T
ENST00000679919.1:n.2135C>T
ENST00000679928.1:c.*2416C>T	ENSP00000506071.1:n.*2416C>T
ENST00000680999.1:c.*283C>T	ENSP00000504984.1:n.*283C>T
ENST00000681282.1:c.*2051C>T	ENSP00000506339.1:n.*2051C>T
ENST00000333213.10:c.*283C>T	ENSP00000327487.6:n.*283C>T
ENST00000577197.1:n.612C>T
NM_207346.2:c.*283C>T	NP_997229.2:n.*283C>T
XM_005257229.2:c.*363C>T	XP_005257286.1:n.*363C>T
XM_006721821.2:c.*363C>T	XP_006721884.1:n.*363C>T
XM_011524616.1:c.*363C>T	XP_011522918.1:n.*363C>T
XM_011524618.1:c.*283C>T	XP_011522920.1:n.*283C>T
XR_243646.2:n.2096C>T
XM_005257229.4:c.*363C>T	XP_005257286.1:n.*363C>T
XR_243646.4:n.2102C>T
NM_207346.3:c.*283C>T MANE Select	NP_997229.2:n.*283C>T