Canonical Allele Identifier: CA502046219

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522038-C-A
• MyVariant Identifiers: chr17:g.73518119C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522038C>A , CM000679.2:g.75522038C>A	GRCh38
NC_000017.10:g.73518119C>A , CM000679.1:g.73518119C>A	GRCh37
NC_000017.9:g.71029714C>A	NCBI36
NG_013041.1:g.10511C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.957C>A MANE Select	ENSP00000327487.6:p.Ala319=
ENST00000434205.8:c.654C>A	ENSP00000406559.4:p.Ala218=
ENST00000545228.3:c.957C>A	ENSP00000438169.3:p.Ala319=
ENST00000579449.2:n.756C>A
ENST00000580013.6:n.1160C>A
ENST00000679370.1:n.1538C>A
ENST00000679429.1:c.*415C>A	ENSP00000505403.1:n.*415C>A
ENST00000679443.1:n.1026C>A
ENST00000679782.1:c.957C>A	ENSP00000505995.1:p.Ala319=
ENST00000679919.1:n.1026C>A
ENST00000679928.1:c.*568C>A	ENSP00000506071.1:n.*568C>A
ENST00000680528.1:n.982C>A
ENST00000680999.1:c.957C>A	ENSP00000504984.1:p.Ala319=
ENST00000681282.1:c.*203C>A	ENSP00000506339.1:n.*203C>A
ENST00000333213.10:c.957C>A	ENSP00000327487.6:p.Ala319=
ENST00000545228.2:c.46C>A
ENST00000578415.1:c.917C>A
ENST00000583173.5:c.490C>A	ENSP00000463619.1:p.Pro164Thr
NM_207346.2:c.957C>A	NP_997229.2:p.Ala319=
XM_005257229.2:c.957C>A	XP_005257286.1:p.Ala319=
XM_006721821.2:c.654C>A	XP_006721884.1:p.Ala218=
XM_011524616.1:c.957C>A	XP_011522918.1:p.Ala319=
XM_011524617.1:c.957C>A	XP_011522919.1:p.Ala319=
XM_011524618.1:c.957C>A	XP_011522920.1:p.Ala319=
XR_243646.2:n.987C>A
XM_005257229.4:c.957C>A	XP_005257286.1:p.Ala319=
XR_243646.4:n.993C>A
NM_207346.3:c.957C>A MANE Select	NP_997229.2:p.Ala319=