Canonical Allele Identifier: CA2739561805

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524448G>T , CM000679.2:g.75524448G>T	GRCh38
NC_000017.10:g.73520529G>T , CM000679.1:g.73520529G>T	GRCh37
NC_000017.9:g.71032124G>T	NCBI36
NG_013041.1:g.12921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*36G>T MANE Select	ENSP00000327487.6:n.*36G>T
ENST00000434205.8:c.*36G>T	ENSP00000406559.4:n.*36G>T
ENST00000545228.3:c.*116G>T	ENSP00000438169.3:n.*116G>T
ENST00000577197.2:n.815G>T
ENST00000579449.2:n.2357G>T
ENST00000580013.6:n.2761G>T
ENST00000679370.1:n.3139G>T
ENST00000679429.1:c.*1075G>T	ENSP00000505403.1:n.*1075G>T
ENST00000679443.1:n.1686G>T
ENST00000679782.1:c.*316G>T	ENSP00000505995.1:n.*316G>T
ENST00000679919.1:n.1888G>T
ENST00000679928.1:c.*2169G>T	ENSP00000506071.1:n.*2169G>T
ENST00000680999.1:c.*36G>T	ENSP00000504984.1:n.*36G>T
ENST00000681282.1:c.*1804G>T	ENSP00000506339.1:n.*1804G>T
ENST00000333213.10:c.*36G>T	ENSP00000327487.6:n.*36G>T
ENST00000545228.2:c.894G>T
ENST00000577197.1:n.365G>T
NM_207346.2:c.*36G>T	NP_997229.2:n.*36G>T
XM_005257229.2:c.*116G>T	XP_005257286.1:n.*116G>T
XM_006721821.2:c.*116G>T	XP_006721884.1:n.*116G>T
XM_011524616.1:c.*116G>T	XP_011522918.1:n.*116G>T
XM_011524618.1:c.*36G>T	XP_011522920.1:n.*36G>T
XR_243646.2:n.1849G>T
XM_005257229.4:c.*116G>T	XP_005257286.1:n.*116G>T
XR_243646.4:n.1855G>T
NM_207346.3:c.*36G>T MANE Select	NP_997229.2:n.*36G>T