Canonical Allele Identifier: CA401031219

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520398G>C (hg19) ; chr17:g.75524317G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524317G>C , CM000679.2:g.75524317G>C	GRCh38
NC_000017.10:g.73520398G>C , CM000679.1:g.73520398G>C	GRCh37
NC_000017.9:g.71031993G>C	NCBI36
NG_013041.1:g.12790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1486G>C MANE Select	ENSP00000327487.6:p.Gly496Arg
ENST00000434205.8:c.1183G>C	ENSP00000406559.4:p.Gly395Arg
ENST00000545228.3:c.1674G>C	ENSP00000438169.3:p.Val558=
ENST00000577197.2:n.684G>C
ENST00000579449.2:n.2226G>C
ENST00000580013.6:n.2630G>C
ENST00000679370.1:n.3008G>C
ENST00000679429.1:c.*944G>C	ENSP00000505403.1:n.*944G>C
ENST00000679443.1:n.1555G>C
ENST00000679782.1:c.*185G>C	ENSP00000505995.1:n.*185G>C
ENST00000679919.1:n.1757G>C
ENST00000679928.1:c.*2038G>C	ENSP00000506071.1:n.*2038G>C
ENST00000680528.1:n.2452G>C
ENST00000680999.1:c.1699G>C	ENSP00000504984.1:p.Gly567Arg
ENST00000681282.1:c.*1673G>C	ENSP00000506339.1:n.*1673G>C
ENST00000333213.10:c.1486G>C	ENSP00000327487.6:p.Gly496Arg
ENST00000545228.2:c.763G>C
ENST00000577197.1:n.234G>C
ENST00000579449.1:n.683G>C
NM_207346.2:c.1486G>C	NP_997229.2:p.Gly496Arg
XM_005257229.2:c.1674G>C	XP_005257286.1:p.Val558=
XM_006721821.2:c.1371G>C	XP_006721884.1:p.Val457=
XM_011524616.1:c.1557G>C	XP_011522918.1:p.Val519=
XM_011524617.1:c.*68G>C	XP_011522919.1:n.*68G>C
XM_011524618.1:c.1369G>C	XP_011522920.1:p.Gly457Arg
XR_243646.2:n.1718G>C
XM_005257229.4:c.1674G>C	XP_005257286.1:p.Val558=
XR_001753015.1:n.81C>G
XR_001753016.1:n.82C>G
XR_243646.4:n.1724G>C
NM_207346.3:c.1486G>C MANE Select	NP_997229.2:p.Gly496Arg