Canonical Allele Identifier: CA401028612

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521756-T-G
• MyVariant Identifiers: chr17:g.73517837T>G (hg19) ; chr17:g.75521756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521756T>G , CM000679.2:g.75521756T>G	GRCh38
NC_000017.10:g.73517837T>G , CM000679.1:g.73517837T>G	GRCh37
NC_000017.9:g.71029432T>G	NCBI36
NG_013041.1:g.10229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.675T>G MANE Select	ENSP00000327487.6:p.Ser225Arg
ENST00000434205.8:c.372T>G	ENSP00000406559.4:p.Ser124Arg
ENST00000545228.3:c.675T>G	ENSP00000438169.3:p.Ser225Arg
ENST00000579449.2:n.474T>G
ENST00000580013.6:n.878T>G
ENST00000583818.2:c.729T>G	ENSP00000461928.2:n.729T>G
ENST00000679370.1:n.1256T>G
ENST00000679429.1:c.*133T>G	ENSP00000505403.1:n.*133T>G
ENST00000679443.1:n.744T>G
ENST00000679782.1:c.675T>G	ENSP00000505995.1:p.Ser225Arg
ENST00000679919.1:n.744T>G
ENST00000679928.1:c.*286T>G	ENSP00000506071.1:n.*286T>G
ENST00000680528.1:n.700T>G
ENST00000680999.1:c.675T>G	ENSP00000504984.1:p.Ser225Arg
ENST00000681282.1:c.704T>G	ENSP00000506339.1:p.Val235Gly
ENST00000333213.10:c.675T>G	ENSP00000327487.6:p.Ser225Arg
ENST00000578415.1:c.635T>G
ENST00000583173.5:c.458+246T>G	ENSP00000463619.1:n.458+246T>G
ENST00000583818.1:c.624T>G	ENSP00000461928.1:n.624T>G
NM_207346.2:c.675T>G	NP_997229.2:p.Ser225Arg
XM_005257229.2:c.675T>G	XP_005257286.1:p.Ser225Arg
XM_006721821.2:c.372T>G	XP_006721884.1:p.Ser124Arg
XM_011524616.1:c.675T>G	XP_011522918.1:p.Ser225Arg
XM_011524617.1:c.675T>G	XP_011522919.1:p.Ser225Arg
XM_011524618.1:c.675T>G	XP_011522920.1:p.Ser225Arg
XR_243646.2:n.705T>G
XM_005257229.4:c.675T>G	XP_005257286.1:p.Ser225Arg
XR_243646.4:n.711T>G
NM_207346.3:c.675T>G MANE Select	NP_997229.2:p.Ser225Arg