Canonical Allele Identifier: CA401028467

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517800A>C (hg19) ; chr17:g.75521719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521719A>C , CM000679.2:g.75521719A>C	GRCh38
NC_000017.10:g.73517800A>C , CM000679.1:g.73517800A>C	GRCh37
NC_000017.9:g.71029395A>C	NCBI36
NG_013041.1:g.10192A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.638A>C MANE Select	ENSP00000327487.6:p.Lys213Thr
ENST00000434205.8:c.335A>C	ENSP00000406559.4:p.Lys112Thr
ENST00000545228.3:c.638A>C	ENSP00000438169.3:p.Lys213Thr
ENST00000579449.2:n.437A>C
ENST00000580013.6:n.841A>C
ENST00000583818.2:c.692A>C	ENSP00000461928.2:n.692A>C
ENST00000679370.1:n.1219A>C
ENST00000679429.1:c.*96A>C	ENSP00000505403.1:n.*96A>C
ENST00000679443.1:n.707A>C
ENST00000679782.1:c.638A>C	ENSP00000505995.1:p.Lys213Thr
ENST00000679919.1:n.707A>C
ENST00000679928.1:c.*249A>C	ENSP00000506071.1:n.*249A>C
ENST00000680528.1:n.663A>C
ENST00000680999.1:c.638A>C	ENSP00000504984.1:p.Lys213Thr
ENST00000681282.1:c.667A>C	ENSP00000506339.1:p.Arg223=
ENST00000333213.10:c.638A>C	ENSP00000327487.6:p.Lys213Thr
ENST00000578415.1:c.598A>C
ENST00000583173.5:c.458+209A>C	ENSP00000463619.1:n.458+209A>C
ENST00000583818.1:c.587A>C	ENSP00000461928.1:n.587A>C
NM_207346.2:c.638A>C	NP_997229.2:p.Lys213Thr
XM_005257229.2:c.638A>C	XP_005257286.1:p.Lys213Thr
XM_006721821.2:c.335A>C	XP_006721884.1:p.Lys112Thr
XM_011524616.1:c.638A>C	XP_011522918.1:p.Lys213Thr
XM_011524617.1:c.638A>C	XP_011522919.1:p.Lys213Thr
XM_011524618.1:c.638A>C	XP_011522920.1:p.Lys213Thr
XR_243646.2:n.668A>C
XM_005257229.4:c.638A>C	XP_005257286.1:p.Lys213Thr
XR_243646.4:n.674A>C
NM_207346.3:c.638A>C MANE Select	NP_997229.2:p.Lys213Thr