Canonical Allele Identifier: CA401026891

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516612-C-T
• MyVariant Identifiers: chr17:g.73512693C>T (hg19) ; chr17:g.75516612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516612C>T , CM000679.2:g.75516612C>T	GRCh38
NC_000017.10:g.73512693C>T , CM000679.1:g.73512693C>T	GRCh37
NC_000017.9:g.71024288C>T	NCBI36
NG_013041.1:g.5085C>T
NG_033152.1:g.3972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.52C>T MANE Select	ENSP00000327487.6:p.Leu18Phe
ENST00000434205.8:c.-83+226C>T	ENSP00000406559.4:n.-83+226C>T
ENST00000545228.3:c.52C>T	ENSP00000438169.3:p.Leu18Phe
ENST00000579449.2:n.16C>T
ENST00000580013.6:n.61C>T
ENST00000583818.2:c.52C>T	ENSP00000461928.2:p.Leu18Phe
ENST00000679370.1:n.444-134C>T
ENST00000679429.1:c.52C>T	ENSP00000505403.1:p.Leu18Phe
ENST00000679782.1:c.52C>T	ENSP00000505995.1:p.Leu18Phe
ENST00000679928.1:c.52C>T	ENSP00000506071.1:p.Leu18Phe
ENST00000680528.1:n.77C>T
ENST00000680999.1:c.52C>T	ENSP00000504984.1:p.Leu18Phe
ENST00000681282.1:c.52C>T	ENSP00000506339.1:p.Leu18Phe
ENST00000333213.10:c.52C>T	ENSP00000327487.6:p.Leu18Phe
ENST00000434205.7:c.-83+226C>T	ENSP00000406559.3:n.-83+226C>T
ENST00000580013.5:n.77C>T
ENST00000583173.5:c.52C>T	ENSP00000463619.1:p.Leu18Phe
ENST00000583454.1:n.87C>T
NM_207346.2:c.52C>T	NP_997229.2:p.Leu18Phe
XM_005257229.2:c.52C>T	XP_005257286.1:p.Leu18Phe
XM_006721821.2:c.-247-134C>T	XP_006721884.1:n.-247-134C>T
XM_011524616.1:c.52C>T	XP_011522918.1:p.Leu18Phe
XM_011524617.1:c.52C>T	XP_011522919.1:p.Leu18Phe
XM_011524618.1:c.52C>T	XP_011522920.1:p.Leu18Phe
XR_243646.2:n.82C>T
XM_005257229.4:c.52C>T	XP_005257286.1:p.Leu18Phe
XR_243646.4:n.88C>T
NM_207346.3:c.52C>T MANE Select	NP_997229.2:p.Leu18Phe