Canonical Allele Identifier: CA401028462

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73517799A>C (hg19) ; chr17:g.75521718A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521718A>C , CM000679.2:g.75521718A>C	GRCh38
NC_000017.10:g.73517799A>C , CM000679.1:g.73517799A>C	GRCh37
NC_000017.9:g.71029394A>C	NCBI36
NG_013041.1:g.10191A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.637A>C MANE Select	ENSP00000327487.6:p.Lys213Gln
ENST00000434205.8:c.334A>C	ENSP00000406559.4:p.Lys112Gln
ENST00000545228.3:c.637A>C	ENSP00000438169.3:p.Lys213Gln
ENST00000579449.2:n.436A>C
ENST00000580013.6:n.840A>C
ENST00000583818.2:c.691A>C	ENSP00000461928.2:n.691A>C
ENST00000679370.1:n.1218A>C
ENST00000679429.1:c.*95A>C	ENSP00000505403.1:n.*95A>C
ENST00000679443.1:n.706A>C
ENST00000679782.1:c.637A>C	ENSP00000505995.1:p.Lys213Gln
ENST00000679919.1:n.706A>C
ENST00000679928.1:c.*248A>C	ENSP00000506071.1:n.*248A>C
ENST00000680528.1:n.662A>C
ENST00000680999.1:c.637A>C	ENSP00000504984.1:p.Lys213Gln
ENST00000681282.1:c.666A>C	ENSP00000506339.1:p.Arg222Ser
ENST00000333213.10:c.637A>C	ENSP00000327487.6:p.Lys213Gln
ENST00000578415.1:c.597A>C
ENST00000583173.5:c.458+208A>C	ENSP00000463619.1:n.458+208A>C
ENST00000583818.1:c.586A>C	ENSP00000461928.1:n.586A>C
NM_207346.2:c.637A>C	NP_997229.2:p.Lys213Gln
XM_005257229.2:c.637A>C	XP_005257286.1:p.Lys213Gln
XM_006721821.2:c.334A>C	XP_006721884.1:p.Lys112Gln
XM_011524616.1:c.637A>C	XP_011522918.1:p.Lys213Gln
XM_011524617.1:c.637A>C	XP_011522919.1:p.Lys213Gln
XM_011524618.1:c.637A>C	XP_011522920.1:p.Lys213Gln
XR_243646.2:n.667A>C
XM_005257229.4:c.637A>C	XP_005257286.1:p.Lys213Gln
XR_243646.4:n.673A>C
NM_207346.3:c.637A>C MANE Select	NP_997229.2:p.Lys213Gln