Canonical Allele Identifier: CA401031199

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520393A>C (hg19) ; chr17:g.75524312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524312A>C , CM000679.2:g.75524312A>C	GRCh38
NC_000017.10:g.73520393A>C , CM000679.1:g.73520393A>C	GRCh37
NC_000017.9:g.71031988A>C	NCBI36
NG_013041.1:g.12785A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1481A>C MANE Select	ENSP00000327487.6:p.Gln494Pro
ENST00000434205.8:c.1178A>C	ENSP00000406559.4:p.Gln393Pro
ENST00000545228.3:c.1669A>C	ENSP00000438169.3:p.Arg557=
ENST00000577197.2:n.679A>C
ENST00000579449.2:n.2221A>C
ENST00000580013.6:n.2625A>C
ENST00000679370.1:n.3003A>C
ENST00000679429.1:c.*939A>C	ENSP00000505403.1:n.*939A>C
ENST00000679443.1:n.1550A>C
ENST00000679782.1:c.*180A>C	ENSP00000505995.1:n.*180A>C
ENST00000679919.1:n.1752A>C
ENST00000679928.1:c.*2033A>C	ENSP00000506071.1:n.*2033A>C
ENST00000680528.1:n.2447A>C
ENST00000680999.1:c.1694A>C	ENSP00000504984.1:p.Gln565Pro
ENST00000681282.1:c.*1668A>C	ENSP00000506339.1:n.*1668A>C
ENST00000333213.10:c.1481A>C	ENSP00000327487.6:p.Gln494Pro
ENST00000545228.2:c.758A>C
ENST00000577197.1:n.229A>C
ENST00000579449.1:n.678A>C
NM_207346.2:c.1481A>C	NP_997229.2:p.Gln494Pro
XM_005257229.2:c.1669A>C	XP_005257286.1:p.Arg557=
XM_006721821.2:c.1366A>C	XP_006721884.1:p.Arg456=
XM_011524616.1:c.1552A>C	XP_011522918.1:p.Arg518=
XM_011524617.1:c.*63A>C	XP_011522919.1:n.*63A>C
XM_011524618.1:c.1364A>C	XP_011522920.1:p.Gln455Pro
XR_243646.2:n.1713A>C
XM_005257229.4:c.1669A>C	XP_005257286.1:p.Arg557=
XR_001753015.1:n.86T>G
XR_001753016.1:n.87T>G
XR_243646.4:n.1719A>C
NM_207346.3:c.1481A>C MANE Select	NP_997229.2:p.Gln494Pro