Canonical Allele Identifier: CA502045908

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522008-C-T
• MyVariant Identifiers: chr17:g.73518089C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522008C>T , CM000679.2:g.75522008C>T	GRCh38
NC_000017.10:g.73518089C>T , CM000679.1:g.73518089C>T	GRCh37
NC_000017.9:g.71029684C>T	NCBI36
NG_013041.1:g.10481C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.927C>T MANE Select	ENSP00000327487.6:p.Asp309=
ENST00000434205.8:c.624C>T	ENSP00000406559.4:p.Asp208=
ENST00000545228.3:c.927C>T	ENSP00000438169.3:p.Asp309=
ENST00000579449.2:n.726C>T
ENST00000580013.6:n.1130C>T
ENST00000679370.1:n.1508C>T
ENST00000679429.1:c.*385C>T	ENSP00000505403.1:n.*385C>T
ENST00000679443.1:n.996C>T
ENST00000679782.1:c.927C>T	ENSP00000505995.1:p.Asp309=
ENST00000679919.1:n.996C>T
ENST00000679928.1:c.*538C>T	ENSP00000506071.1:n.*538C>T
ENST00000680528.1:n.952C>T
ENST00000680999.1:c.927C>T	ENSP00000504984.1:p.Asp309=
ENST00000681282.1:c.*173C>T	ENSP00000506339.1:n.*173C>T
ENST00000333213.10:c.927C>T	ENSP00000327487.6:p.Asp309=
ENST00000545228.2:c.16C>T
ENST00000578415.1:c.887C>T
ENST00000583173.5:c.460C>T	ENSP00000463619.1:p.Gln154Ter
NM_207346.2:c.927C>T	NP_997229.2:p.Asp309=
XM_005257229.2:c.927C>T	XP_005257286.1:p.Asp309=
XM_006721821.2:c.624C>T	XP_006721884.1:p.Asp208=
XM_011524616.1:c.927C>T	XP_011522918.1:p.Asp309=
XM_011524617.1:c.927C>T	XP_011522919.1:p.Asp309=
XM_011524618.1:c.927C>T	XP_011522920.1:p.Asp309=
XR_243646.2:n.957C>T
XM_005257229.4:c.927C>T	XP_005257286.1:p.Asp309=
XR_243646.4:n.963C>T
NM_207346.3:c.927C>T MANE Select	NP_997229.2:p.Asp309=