Canonical Allele Identifier: CA401031166

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520385G>T (hg19) ; chr17:g.75524304G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524304G>T , CM000679.2:g.75524304G>T	GRCh38
NC_000017.10:g.73520385G>T , CM000679.1:g.73520385G>T	GRCh37
NC_000017.9:g.71031980G>T	NCBI36
NG_013041.1:g.12777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1473G>T MANE Select	ENSP00000327487.6:p.Leu491Phe
ENST00000434205.8:c.1170G>T	ENSP00000406559.4:p.Leu390Phe
ENST00000545228.3:c.1661G>T	ENSP00000438169.3:p.Cys554Phe
ENST00000577197.2:n.671G>T
ENST00000579449.2:n.2213G>T
ENST00000580013.6:n.2617G>T
ENST00000679370.1:n.2995G>T
ENST00000679429.1:c.*931G>T	ENSP00000505403.1:n.*931G>T
ENST00000679443.1:n.1542G>T
ENST00000679782.1:c.*172G>T	ENSP00000505995.1:n.*172G>T
ENST00000679919.1:n.1744G>T
ENST00000679928.1:c.*2025G>T	ENSP00000506071.1:n.*2025G>T
ENST00000680528.1:n.2439G>T
ENST00000680999.1:c.1686G>T	ENSP00000504984.1:p.Leu562Phe
ENST00000681282.1:c.*1660G>T	ENSP00000506339.1:n.*1660G>T
ENST00000333213.10:c.1473G>T	ENSP00000327487.6:p.Leu491Phe
ENST00000545228.2:c.750G>T
ENST00000577197.1:n.221G>T
ENST00000579449.1:n.670G>T
NM_207346.2:c.1473G>T	NP_997229.2:p.Leu491Phe
XM_005257229.2:c.1661G>T	XP_005257286.1:p.Cys554Phe
XM_006721821.2:c.1358G>T	XP_006721884.1:p.Cys453Phe
XM_011524616.1:c.1544G>T	XP_011522918.1:p.Cys515Phe
XM_011524617.1:c.*55G>T	XP_011522919.1:n.*55G>T
XM_011524618.1:c.1356G>T	XP_011522920.1:p.Leu452Phe
XR_243646.2:n.1705G>T
XM_005257229.4:c.1661G>T	XP_005257286.1:p.Cys554Phe
XR_001753015.1:n.87+7C>A
XR_001753016.1:n.88+7C>A
XR_243646.4:n.1711G>T
NM_207346.3:c.1473G>T MANE Select	NP_997229.2:p.Leu491Phe