Canonical Allele Identifier: CA2639836514

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524595-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524595C>T , CM000679.2:g.75524595C>T	GRCh38
NC_000017.10:g.73520676C>T , CM000679.1:g.73520676C>T	GRCh37
NC_000017.9:g.71032271C>T	NCBI36
NG_013041.1:g.13068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*183C>T MANE Select	ENSP00000327487.6:n.*183C>T
ENST00000434205.8:c.*183C>T	ENSP00000406559.4:n.*183C>T
ENST00000545228.3:c.*263C>T	ENSP00000438169.3:n.*263C>T
ENST00000577197.2:n.962C>T
ENST00000579449.2:n.2504C>T
ENST00000580013.6:n.2908C>T
ENST00000679370.1:n.3286C>T
ENST00000679429.1:c.*1222C>T	ENSP00000505403.1:n.*1222C>T
ENST00000679443.1:n.1833C>T
ENST00000679782.1:c.*463C>T	ENSP00000505995.1:n.*463C>T
ENST00000679919.1:n.2035C>T
ENST00000679928.1:c.*2316C>T	ENSP00000506071.1:n.*2316C>T
ENST00000680999.1:c.*183C>T	ENSP00000504984.1:n.*183C>T
ENST00000681282.1:c.*1951C>T	ENSP00000506339.1:n.*1951C>T
ENST00000333213.10:c.*183C>T	ENSP00000327487.6:n.*183C>T
ENST00000545228.2:c.1041C>T
ENST00000577197.1:n.512C>T
NM_207346.2:c.*183C>T	NP_997229.2:n.*183C>T
XM_005257229.2:c.*263C>T	XP_005257286.1:n.*263C>T
XM_006721821.2:c.*263C>T	XP_006721884.1:n.*263C>T
XM_011524616.1:c.*263C>T	XP_011522918.1:n.*263C>T
XM_011524618.1:c.*183C>T	XP_011522920.1:n.*183C>T
XR_243646.2:n.1996C>T
XM_005257229.4:c.*263C>T	XP_005257286.1:n.*263C>T
XR_243646.4:n.2002C>T
NM_207346.3:c.*183C>T MANE Select	NP_997229.2:n.*183C>T