Canonical Allele Identifier: CA401029880

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522208-C-T
• COSMIC: COSM3691797
• MyVariant Identifiers: chr17:g.73518289C>T (hg19) ; chr17:g.75522208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522208C>T , CM000679.2:g.75522208C>T	GRCh38
NC_000017.10:g.73518289C>T , CM000679.1:g.73518289C>T	GRCh37
NC_000017.9:g.71029884C>T	NCBI36
NG_013041.1:g.10681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1127C>T MANE Select	ENSP00000327487.6:p.Ser376Phe
ENST00000434205.8:c.824C>T	ENSP00000406559.4:p.Ser275Phe
ENST00000545228.3:c.1127C>T	ENSP00000438169.3:p.Ser376Phe
ENST00000579449.2:n.926C>T
ENST00000580013.6:n.1330C>T
ENST00000679370.1:n.1708C>T
ENST00000679429.1:c.*585C>T	ENSP00000505403.1:n.*585C>T
ENST00000679443.1:n.1196C>T
ENST00000679782.1:c.1127C>T	ENSP00000505995.1:p.Ser376Phe
ENST00000679919.1:n.1196C>T
ENST00000679928.1:c.*738C>T	ENSP00000506071.1:n.*738C>T
ENST00000680528.1:n.1152C>T
ENST00000680999.1:c.1127C>T	ENSP00000504984.1:p.Ser376Phe
ENST00000681282.1:c.*373C>T	ENSP00000506339.1:n.*373C>T
ENST00000333213.10:c.1127C>T	ENSP00000327487.6:p.Ser376Phe
ENST00000545228.2:c.216C>T
ENST00000583173.5:c.660C>T	ENSP00000463619.1:n.660C>T
NM_207346.2:c.1127C>T	NP_997229.2:p.Ser376Phe
XM_005257229.2:c.1127C>T	XP_005257286.1:p.Ser376Phe
XM_006721821.2:c.824C>T	XP_006721884.1:p.Ser275Phe
XM_011524616.1:c.1127C>T	XP_011522918.1:p.Ser376Phe
XM_011524617.1:c.1127C>T	XP_011522919.1:p.Ser376Phe
XM_011524618.1:c.1127C>T	XP_011522920.1:p.Ser376Phe
XR_243646.2:n.1157C>T
XM_005257229.4:c.1127C>T	XP_005257286.1:p.Ser376Phe
XR_243646.4:n.1163C>T
NM_207346.3:c.1127C>T MANE Select	NP_997229.2:p.Ser376Phe