Canonical Allele Identifier: CA502046434

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522128-C-A
• MyVariant Identifiers: chr17:g.73518209C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522128C>A , CM000679.2:g.75522128C>A	GRCh38
NC_000017.10:g.73518209C>A , CM000679.1:g.73518209C>A	GRCh37
NC_000017.9:g.71029804C>A	NCBI36
NG_013041.1:g.10601C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1047C>A MANE Select	ENSP00000327487.6:p.Ser349=
ENST00000434205.8:c.744C>A	ENSP00000406559.4:p.Ser248=
ENST00000545228.3:c.1047C>A	ENSP00000438169.3:p.Ser349=
ENST00000579449.2:n.846C>A
ENST00000580013.6:n.1250C>A
ENST00000679370.1:n.1628C>A
ENST00000679429.1:c.*505C>A	ENSP00000505403.1:n.*505C>A
ENST00000679443.1:n.1116C>A
ENST00000679782.1:c.1047C>A	ENSP00000505995.1:p.Ser349=
ENST00000679919.1:n.1116C>A
ENST00000679928.1:c.*658C>A	ENSP00000506071.1:n.*658C>A
ENST00000680528.1:n.1072C>A
ENST00000680999.1:c.1047C>A	ENSP00000504984.1:p.Ser349=
ENST00000681282.1:c.*293C>A	ENSP00000506339.1:n.*293C>A
ENST00000333213.10:c.1047C>A	ENSP00000327487.6:p.Ser349=
ENST00000545228.2:c.136C>A
ENST00000583173.5:c.580C>A	ENSP00000463619.1:n.580C>A
NM_207346.2:c.1047C>A	NP_997229.2:p.Ser349=
XM_005257229.2:c.1047C>A	XP_005257286.1:p.Ser349=
XM_006721821.2:c.744C>A	XP_006721884.1:p.Ser248=
XM_011524616.1:c.1047C>A	XP_011522918.1:p.Ser349=
XM_011524617.1:c.1047C>A	XP_011522919.1:p.Ser349=
XM_011524618.1:c.1047C>A	XP_011522920.1:p.Ser349=
XR_243646.2:n.1077C>A
XM_005257229.4:c.1047C>A	XP_005257286.1:p.Ser349=
XR_243646.4:n.1083C>A
NM_207346.3:c.1047C>A MANE Select	NP_997229.2:p.Ser349=