Canonical Allele Identifier: CA401028866

Gene: TSEN54

Linked Data

• dbSNP Id: rs1188160997
• gnomAD v2: 17-73517908-G-C
• gnomAD v4: 17-75521827-G-C
• MyVariant Identifiers: chr17:g.73517908G>C (hg19) ; chr17:g.75521827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521827G>C , CM000679.2:g.75521827G>C	GRCh38
NC_000017.10:g.73517908G>C , CM000679.1:g.73517908G>C	GRCh37
NC_000017.9:g.71029503G>C	NCBI36
NG_013041.1:g.10300G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.746G>C MANE Select	ENSP00000327487.6:p.Ser249Thr
ENST00000434205.8:c.443G>C	ENSP00000406559.4:p.Ser148Thr
ENST00000545228.3:c.746G>C	ENSP00000438169.3:p.Ser249Thr
ENST00000579449.2:n.545G>C
ENST00000580013.6:n.949G>C
ENST00000583818.2:c.800G>C	ENSP00000461928.2:n.800G>C
ENST00000679370.1:n.1327G>C
ENST00000679429.1:c.*204G>C	ENSP00000505403.1:n.*204G>C
ENST00000679443.1:n.815G>C
ENST00000679782.1:c.746G>C	ENSP00000505995.1:p.Ser249Thr
ENST00000679919.1:n.815G>C
ENST00000679928.1:c.*357G>C	ENSP00000506071.1:n.*357G>C
ENST00000680528.1:n.771G>C
ENST00000680999.1:c.746G>C	ENSP00000504984.1:p.Ser249Thr
ENST00000681282.1:c.775G>C	ENSP00000506339.1:p.Ala259Pro
ENST00000333213.10:c.746G>C	ENSP00000327487.6:p.Ser249Thr
ENST00000578415.1:c.706G>C
ENST00000583173.5:c.459-180G>C	ENSP00000463619.1:n.459-180G>C
ENST00000583818.1:c.695G>C	ENSP00000461928.1:n.695G>C
NM_207346.2:c.746G>C	NP_997229.2:p.Ser249Thr
XM_005257229.2:c.746G>C	XP_005257286.1:p.Ser249Thr
XM_006721821.2:c.443G>C	XP_006721884.1:p.Ser148Thr
XM_011524616.1:c.746G>C	XP_011522918.1:p.Ser249Thr
XM_011524617.1:c.746G>C	XP_011522919.1:p.Ser249Thr
XM_011524618.1:c.746G>C	XP_011522920.1:p.Ser249Thr
XR_243646.2:n.776G>C
XM_005257229.4:c.746G>C	XP_005257286.1:p.Ser249Thr
XR_243646.4:n.782G>C
NM_207346.3:c.746G>C MANE Select	NP_997229.2:p.Ser249Thr