Canonical Allele Identifier: CA401028775

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053429674
• gnomAD v4: 17-75521800-G-A
• MyVariant Identifiers: chr17:g.73517881G>A (hg19) ; chr17:g.75521800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521800G>A , CM000679.2:g.75521800G>A	GRCh38
NC_000017.10:g.73517881G>A , CM000679.1:g.73517881G>A	GRCh37
NC_000017.9:g.71029476G>A	NCBI36
NG_013041.1:g.10273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.719G>A MANE Select	ENSP00000327487.6:p.Cys240Tyr
ENST00000434205.8:c.416G>A	ENSP00000406559.4:p.Cys139Tyr
ENST00000545228.3:c.719G>A	ENSP00000438169.3:p.Cys240Tyr
ENST00000579449.2:n.518G>A
ENST00000580013.6:n.922G>A
ENST00000583818.2:c.773G>A	ENSP00000461928.2:n.773G>A
ENST00000679370.1:n.1300G>A
ENST00000679429.1:c.*177G>A	ENSP00000505403.1:n.*177G>A
ENST00000679443.1:n.788G>A
ENST00000679782.1:c.719G>A	ENSP00000505995.1:p.Cys240Tyr
ENST00000679919.1:n.788G>A
ENST00000679928.1:c.*330G>A	ENSP00000506071.1:n.*330G>A
ENST00000680528.1:n.744G>A
ENST00000680999.1:c.719G>A	ENSP00000504984.1:p.Cys240Tyr
ENST00000681282.1:c.748G>A	ENSP00000506339.1:p.Ala250Thr
ENST00000333213.10:c.719G>A	ENSP00000327487.6:p.Cys240Tyr
ENST00000578415.1:c.679G>A
ENST00000583173.5:c.459-207G>A	ENSP00000463619.1:n.459-207G>A
ENST00000583818.1:c.668G>A	ENSP00000461928.1:n.668G>A
NM_207346.2:c.719G>A	NP_997229.2:p.Cys240Tyr
XM_005257229.2:c.719G>A	XP_005257286.1:p.Cys240Tyr
XM_006721821.2:c.416G>A	XP_006721884.1:p.Cys139Tyr
XM_011524616.1:c.719G>A	XP_011522918.1:p.Cys240Tyr
XM_011524617.1:c.719G>A	XP_011522919.1:p.Cys240Tyr
XM_011524618.1:c.719G>A	XP_011522920.1:p.Cys240Tyr
XR_243646.2:n.749G>A
XM_005257229.4:c.719G>A	XP_005257286.1:p.Cys240Tyr
XR_243646.4:n.755G>A
NM_207346.3:c.719G>A MANE Select	NP_997229.2:p.Cys240Tyr