Canonical Allele Identifier: CA502045530

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2086581
• ClinVar RCV Id: RCV003007554
• dbSNP Id: rs776923151
• gnomAD v4: 17-75516815-C-T
• MyVariant Identifiers: chr17:g.73512896C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516815C>T , CM000679.2:g.75516815C>T	GRCh38
NC_000017.10:g.73512896C>T , CM000679.1:g.73512896C>T	GRCh37
NC_000017.9:g.71024491C>T	NCBI36
NG_013041.1:g.5288C>T
NG_033152.1:g.3769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.126C>T MANE Select	ENSP00000327487.6:p.Asp42=
ENST00000434205.8:c.-82-194C>T	ENSP00000406559.4:n.-82-194C>T
ENST00000545228.3:c.126C>T	ENSP00000438169.3:p.Asp42=
ENST00000579449.2:n.21-194C>T
ENST00000580013.6:n.135C>T
ENST00000583818.2:c.126C>T	ENSP00000461928.2:p.Asp42=
ENST00000679370.1:n.513C>T
ENST00000679429.1:c.126C>T	ENSP00000505403.1:p.Asp42=
ENST00000679443.1:n.1C>T
ENST00000679782.1:c.126C>T	ENSP00000505995.1:p.Asp42=
ENST00000679919.1:n.1C>T
ENST00000679928.1:c.126C>T	ENSP00000506071.1:p.Asp42=
ENST00000680528.1:n.151C>T
ENST00000680999.1:c.126C>T	ENSP00000504984.1:p.Asp42=
ENST00000681282.1:c.126C>T	ENSP00000506339.1:p.Asp42=
ENST00000333213.10:c.126C>T	ENSP00000327487.6:p.Asp42=
ENST00000434205.7:c.-82-194C>T	ENSP00000406559.3:n.-82-194C>T
ENST00000578415.1:c.4C>T
ENST00000580013.5:n.151C>T
ENST00000583173.5:c.57-194C>T	ENSP00000463619.1:n.57-194C>T
ENST00000583454.1:n.161C>T
ENST00000583818.1:c.21C>T	ENSP00000461928.1:p.Asp7=
NM_207346.2:c.126C>T	NP_997229.2:p.Asp42=
XM_005257229.2:c.126C>T	XP_005257286.1:p.Asp42=
XM_006721821.2:c.-178C>T	XP_006721884.1:n.-178C>T
XM_011524616.1:c.126C>T	XP_011522918.1:p.Asp42=
XM_011524617.1:c.126C>T	XP_011522919.1:p.Asp42=
XM_011524618.1:c.126C>T	XP_011522920.1:p.Asp42=
XR_243646.2:n.156C>T
XM_005257229.4:c.126C>T	XP_005257286.1:p.Asp42=
XR_243646.4:n.162C>T
NM_207346.3:c.126C>T MANE Select	NP_997229.2:p.Asp42=