Canonical Allele Identifier: CA401028643

Gene: TSEN54

Linked Data

• dbSNP Id: rs1253787546
• gnomAD v2: 17-73517845-C-T
• gnomAD v3: 17-75521764-C-T
• gnomAD v4: 17-75521764-C-T
• MyVariant Identifiers: chr17:g.73517845C>T (hg19) ; chr17:g.75521764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521764C>T , CM000679.2:g.75521764C>T	GRCh38
NC_000017.10:g.73517845C>T , CM000679.1:g.73517845C>T	GRCh37
NC_000017.9:g.71029440C>T	NCBI36
NG_013041.1:g.10237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.683C>T MANE Select	ENSP00000327487.6:p.Ala228Val
ENST00000434205.8:c.380C>T	ENSP00000406559.4:p.Ala127Val
ENST00000545228.3:c.683C>T	ENSP00000438169.3:p.Ala228Val
ENST00000579449.2:n.482C>T
ENST00000580013.6:n.886C>T
ENST00000583818.2:c.737C>T	ENSP00000461928.2:n.737C>T
ENST00000679370.1:n.1264C>T
ENST00000679429.1:c.*141C>T	ENSP00000505403.1:n.*141C>T
ENST00000679443.1:n.752C>T
ENST00000679782.1:c.683C>T	ENSP00000505995.1:p.Ala228Val
ENST00000679919.1:n.752C>T
ENST00000679928.1:c.*294C>T	ENSP00000506071.1:n.*294C>T
ENST00000680528.1:n.708C>T
ENST00000680999.1:c.683C>T	ENSP00000504984.1:p.Ala228Val
ENST00000681282.1:c.712C>T	ENSP00000506339.1:p.Pro238Ser
ENST00000333213.10:c.683C>T	ENSP00000327487.6:p.Ala228Val
ENST00000578415.1:c.643C>T
ENST00000583173.5:c.459-243C>T	ENSP00000463619.1:n.459-243C>T
ENST00000583818.1:c.632C>T	ENSP00000461928.1:n.632C>T
NM_207346.2:c.683C>T	NP_997229.2:p.Ala228Val
XM_005257229.2:c.683C>T	XP_005257286.1:p.Ala228Val
XM_006721821.2:c.380C>T	XP_006721884.1:p.Ala127Val
XM_011524616.1:c.683C>T	XP_011522918.1:p.Ala228Val
XM_011524617.1:c.683C>T	XP_011522919.1:p.Ala228Val
XM_011524618.1:c.683C>T	XP_011522920.1:p.Ala228Val
XR_243646.2:n.713C>T
XM_005257229.4:c.683C>T	XP_005257286.1:p.Ala228Val
XR_243646.4:n.719C>T
NM_207346.3:c.683C>T MANE Select	NP_997229.2:p.Ala228Val