Canonical Allele Identifier: CA401027058

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73512900C>G (hg19) ; chr17:g.75516819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516819C>G , CM000679.2:g.75516819C>G	GRCh38
NC_000017.10:g.73512900C>G , CM000679.1:g.73512900C>G	GRCh37
NC_000017.9:g.71024495C>G	NCBI36
NG_013041.1:g.5292C>G
NG_033152.1:g.3765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.130C>G MANE Select	ENSP00000327487.6:p.Leu44Val
ENST00000434205.8:c.-82-190C>G	ENSP00000406559.4:n.-82-190C>G
ENST00000545228.3:c.130C>G	ENSP00000438169.3:p.Leu44Val
ENST00000579449.2:n.21-190C>G
ENST00000580013.6:n.139C>G
ENST00000583818.2:c.130C>G	ENSP00000461928.2:p.Leu44Val
ENST00000679370.1:n.517C>G
ENST00000679429.1:c.130C>G	ENSP00000505403.1:p.Leu44Val
ENST00000679443.1:n.5C>G
ENST00000679782.1:c.130C>G	ENSP00000505995.1:p.Leu44Val
ENST00000679919.1:n.5C>G
ENST00000679928.1:c.130C>G	ENSP00000506071.1:p.Leu44Val
ENST00000680528.1:n.155C>G
ENST00000680999.1:c.130C>G	ENSP00000504984.1:p.Leu44Val
ENST00000681282.1:c.130C>G	ENSP00000506339.1:p.Leu44Val
ENST00000333213.10:c.130C>G	ENSP00000327487.6:p.Leu44Val
ENST00000434205.7:c.-82-190C>G	ENSP00000406559.3:n.-82-190C>G
ENST00000578415.1:c.8C>G
ENST00000580013.5:n.155C>G
ENST00000583173.5:c.57-190C>G	ENSP00000463619.1:n.57-190C>G
ENST00000583454.1:n.165C>G
ENST00000583818.1:c.25C>G	ENSP00000461928.1:p.Leu9Val
NM_207346.2:c.130C>G	NP_997229.2:p.Leu44Val
XM_005257229.2:c.130C>G	XP_005257286.1:p.Leu44Val
XM_006721821.2:c.-174C>G	XP_006721884.1:n.-174C>G
XM_011524616.1:c.130C>G	XP_011522918.1:p.Leu44Val
XM_011524617.1:c.130C>G	XP_011522919.1:p.Leu44Val
XM_011524618.1:c.130C>G	XP_011522920.1:p.Leu44Val
XR_243646.2:n.160C>G
XM_005257229.4:c.130C>G	XP_005257286.1:p.Leu44Val
XR_243646.4:n.166C>G
NM_207346.3:c.130C>G MANE Select	NP_997229.2:p.Leu44Val