Canonical Allele Identifier: CA294079295

Gene: TSEN54

Linked Data

• dbSNP Id: rs867365878
• gnomAD v4: 17-75522088-C-A
• MyVariant Identifiers: chr17:g.73518169C>A (hg19) ; chr17:g.75522088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522088C>A , CM000679.2:g.75522088C>A	GRCh38
NC_000017.10:g.73518169C>A , CM000679.1:g.73518169C>A	GRCh37
NC_000017.9:g.71029764C>A	NCBI36
NG_013041.1:g.10561C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1007C>A MANE Select	ENSP00000327487.6:p.Ser336Tyr
ENST00000434205.8:c.704C>A	ENSP00000406559.4:p.Ser235Tyr
ENST00000545228.3:c.1007C>A	ENSP00000438169.3:p.Ser336Tyr
ENST00000579449.2:n.806C>A
ENST00000580013.6:n.1210C>A
ENST00000679370.1:n.1588C>A
ENST00000679429.1:c.*465C>A	ENSP00000505403.1:n.*465C>A
ENST00000679443.1:n.1076C>A
ENST00000679782.1:c.1007C>A	ENSP00000505995.1:p.Ser336Tyr
ENST00000679919.1:n.1076C>A
ENST00000679928.1:c.*618C>A	ENSP00000506071.1:n.*618C>A
ENST00000680528.1:n.1032C>A
ENST00000680999.1:c.1007C>A	ENSP00000504984.1:p.Ser336Tyr
ENST00000681282.1:c.*253C>A	ENSP00000506339.1:n.*253C>A
ENST00000333213.10:c.1007C>A	ENSP00000327487.6:p.Ser336Tyr
ENST00000545228.2:c.96C>A
ENST00000578415.1:c.967C>A
ENST00000583173.5:c.540C>A	ENSP00000463619.1:n.540C>A
NM_207346.2:c.1007C>A	NP_997229.2:p.Ser336Tyr
XM_005257229.2:c.1007C>A	XP_005257286.1:p.Ser336Tyr
XM_006721821.2:c.704C>A	XP_006721884.1:p.Ser235Tyr
XM_011524616.1:c.1007C>A	XP_011522918.1:p.Ser336Tyr
XM_011524617.1:c.1007C>A	XP_011522919.1:p.Ser336Tyr
XM_011524618.1:c.1007C>A	XP_011522920.1:p.Ser336Tyr
XR_243646.2:n.1037C>A
XM_005257229.4:c.1007C>A	XP_005257286.1:p.Ser336Tyr
XR_243646.4:n.1043C>A
NM_207346.3:c.1007C>A MANE Select	NP_997229.2:p.Ser336Tyr