Canonical Allele Identifier: CA8764260

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 1447105
• ClinVar RCV Id: RCV001996712
• dbSNP Id: rs375386151
• ExAC: 17:73517915 G / T
• gnomAD v2: 17-73517915-G-T
• gnomAD v3: 17-75521834-G-T
• gnomAD v4: 17-75521834-G-T
• MyVariant Identifiers: chr17:g.73517915G>T (hg19) ; chr17:g.75521834G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521834G>T , CM000679.2:g.75521834G>T	GRCh38
NC_000017.10:g.73517915G>T , CM000679.1:g.73517915G>T	GRCh37
NC_000017.9:g.71029510G>T	NCBI36
NG_013041.1:g.10307G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.753G>T MANE Select	ENSP00000327487.6:p.Met251Ile
ENST00000434205.8:c.450G>T	ENSP00000406559.4:p.Met150Ile
ENST00000545228.3:c.753G>T	ENSP00000438169.3:p.Met251Ile
ENST00000579449.2:n.552G>T
ENST00000580013.6:n.956G>T
ENST00000583818.2:c.807G>T	ENSP00000461928.2:n.807G>T
ENST00000679370.1:n.1334G>T
ENST00000679429.1:c.*211G>T	ENSP00000505403.1:n.*211G>T
ENST00000679443.1:n.822G>T
ENST00000679782.1:c.753G>T	ENSP00000505995.1:p.Met251Ile
ENST00000679919.1:n.822G>T
ENST00000679928.1:c.*364G>T	ENSP00000506071.1:n.*364G>T
ENST00000680528.1:n.778G>T
ENST00000680999.1:c.753G>T	ENSP00000504984.1:p.Met251Ile
ENST00000681282.1:c.782G>T	ENSP00000506339.1:p.Ter261Leu
ENST00000333213.10:c.753G>T	ENSP00000327487.6:p.Met251Ile
ENST00000578415.1:c.713G>T
ENST00000583173.5:c.459-173G>T	ENSP00000463619.1:n.459-173G>T
ENST00000583818.1:c.702G>T	ENSP00000461928.1:n.702G>T
NM_207346.2:c.753G>T	NP_997229.2:p.Met251Ile
XM_005257229.2:c.753G>T	XP_005257286.1:p.Met251Ile
XM_006721821.2:c.450G>T	XP_006721884.1:p.Met150Ile
XM_011524616.1:c.753G>T	XP_011522918.1:p.Met251Ile
XM_011524617.1:c.753G>T	XP_011522919.1:p.Met251Ile
XM_011524618.1:c.753G>T	XP_011522920.1:p.Met251Ile
XR_243646.2:n.783G>T
XM_005257229.4:c.753G>T	XP_005257286.1:p.Met251Ile
XR_243646.4:n.789G>T
NM_207346.3:c.753G>T MANE Select	NP_997229.2:p.Met251Ile