Canonical Allele Identifier: CA502045800

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75521903-G-T
• MyVariant Identifiers: chr17:g.73517984G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521903G>T , CM000679.2:g.75521903G>T	GRCh38
NC_000017.10:g.73517984G>T , CM000679.1:g.73517984G>T	GRCh37
NC_000017.9:g.71029579G>T	NCBI36
NG_013041.1:g.10376G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.822G>T MANE Select	ENSP00000327487.6:p.Gly274=
ENST00000434205.8:c.519G>T	ENSP00000406559.4:p.Gly173=
ENST00000545228.3:c.822G>T	ENSP00000438169.3:p.Gly274=
ENST00000579449.2:n.621G>T
ENST00000580013.6:n.1025G>T
ENST00000679370.1:n.1403G>T
ENST00000679429.1:c.*280G>T	ENSP00000505403.1:n.*280G>T
ENST00000679443.1:n.891G>T
ENST00000679782.1:c.822G>T	ENSP00000505995.1:p.Gly274=
ENST00000679919.1:n.891G>T
ENST00000679928.1:c.*433G>T	ENSP00000506071.1:n.*433G>T
ENST00000680528.1:n.847G>T
ENST00000680999.1:c.822G>T	ENSP00000504984.1:p.Gly274=
ENST00000681282.1:c.*68G>T	ENSP00000506339.1:n.*68G>T
ENST00000333213.10:c.822G>T	ENSP00000327487.6:p.Gly274=
ENST00000578415.1:c.782G>T
ENST00000583173.5:c.459-104G>T	ENSP00000463619.1:n.459-104G>T
NM_207346.2:c.822G>T	NP_997229.2:p.Gly274=
XM_005257229.2:c.822G>T	XP_005257286.1:p.Gly274=
XM_006721821.2:c.519G>T	XP_006721884.1:p.Gly173=
XM_011524616.1:c.822G>T	XP_011522918.1:p.Gly274=
XM_011524617.1:c.822G>T	XP_011522919.1:p.Gly274=
XM_011524618.1:c.822G>T	XP_011522920.1:p.Gly274=
XR_243646.2:n.852G>T
XM_005257229.4:c.822G>T	XP_005257286.1:p.Gly274=
XR_243646.4:n.858G>T
NM_207346.3:c.822G>T MANE Select	NP_997229.2:p.Gly274=