Canonical Allele Identifier: CA401031301

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524339-C-T
• MyVariant Identifiers: chr17:g.73520420C>T (hg19) ; chr17:g.75524339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524339C>T , CM000679.2:g.75524339C>T	GRCh38
NC_000017.10:g.73520420C>T , CM000679.1:g.73520420C>T	GRCh37
NC_000017.9:g.71032015C>T	NCBI36
NG_013041.1:g.12812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1508C>T MANE Select	ENSP00000327487.6:p.Ala503Val
ENST00000434205.8:c.1205C>T	ENSP00000406559.4:p.Ala402Val
ENST00000545228.3:c.*7C>T	ENSP00000438169.3:n.*7C>T
ENST00000577197.2:n.706C>T
ENST00000579449.2:n.2248C>T
ENST00000580013.6:n.2652C>T
ENST00000679370.1:n.3030C>T
ENST00000679429.1:c.*966C>T	ENSP00000505403.1:n.*966C>T
ENST00000679443.1:n.1577C>T
ENST00000679782.1:c.*207C>T	ENSP00000505995.1:n.*207C>T
ENST00000679919.1:n.1779C>T
ENST00000679928.1:c.*2060C>T	ENSP00000506071.1:n.*2060C>T
ENST00000680528.1:n.2474C>T
ENST00000680999.1:c.1721C>T	ENSP00000504984.1:p.Ala574Val
ENST00000681282.1:c.*1695C>T	ENSP00000506339.1:n.*1695C>T
ENST00000333213.10:c.1508C>T	ENSP00000327487.6:p.Ala503Val
ENST00000545228.2:c.785C>T
ENST00000577197.1:n.256C>T
ENST00000579449.1:n.705C>T
NM_207346.2:c.1508C>T	NP_997229.2:p.Ala503Val
XM_005257229.2:c.*7C>T	XP_005257286.1:n.*7C>T
XM_006721821.2:c.*7C>T	XP_006721884.1:n.*7C>T
XM_011524616.1:c.*7C>T	XP_011522918.1:n.*7C>T
XM_011524617.1:c.*90C>T	XP_011522919.1:n.*90C>T
XM_011524618.1:c.1391C>T	XP_011522920.1:p.Ala464Val
XR_243646.2:n.1740C>T
XM_005257229.4:c.*7C>T	XP_005257286.1:n.*7C>T
XR_001753015.1:n.59G>A
XR_001753016.1:n.60G>A
XR_243646.4:n.1746C>T
NM_207346.3:c.1508C>T MANE Select	NP_997229.2:p.Ala503Val