Canonical Allele Identifier: CA401031455

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520463C>A (hg19) ; chr17:g.75524382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524382C>A , CM000679.2:g.75524382C>A	GRCh38
NC_000017.10:g.73520463C>A , CM000679.1:g.73520463C>A	GRCh37
NC_000017.9:g.71032058C>A	NCBI36
NG_013041.1:g.12855C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1551C>A MANE Select	ENSP00000327487.6:p.Asp517Glu
ENST00000434205.8:c.1248C>A	ENSP00000406559.4:p.Asp416Glu
ENST00000545228.3:c.*50C>A	ENSP00000438169.3:n.*50C>A
ENST00000577197.2:n.749C>A
ENST00000579449.2:n.2291C>A
ENST00000580013.6:n.2695C>A
ENST00000679370.1:n.3073C>A
ENST00000679429.1:c.*1009C>A	ENSP00000505403.1:n.*1009C>A
ENST00000679443.1:n.1620C>A
ENST00000679782.1:c.*250C>A	ENSP00000505995.1:n.*250C>A
ENST00000679919.1:n.1822C>A
ENST00000679928.1:c.*2103C>A	ENSP00000506071.1:n.*2103C>A
ENST00000680528.1:n.2517C>A
ENST00000680999.1:c.1764C>A	ENSP00000504984.1:p.Asp588Glu
ENST00000681282.1:c.*1738C>A	ENSP00000506339.1:n.*1738C>A
ENST00000333213.10:c.1551C>A	ENSP00000327487.6:p.Asp517Glu
ENST00000545228.2:c.828C>A
ENST00000577197.1:n.299C>A
ENST00000579449.1:n.748C>A
NM_207346.2:c.1551C>A	NP_997229.2:p.Asp517Glu
XM_005257229.2:c.*50C>A	XP_005257286.1:n.*50C>A
XM_006721821.2:c.*50C>A	XP_006721884.1:n.*50C>A
XM_011524616.1:c.*50C>A	XP_011522918.1:n.*50C>A
XM_011524618.1:c.1434C>A	XP_011522920.1:p.Asp478Glu
XR_243646.2:n.1783C>A
XM_005257229.4:c.*50C>A	XP_005257286.1:n.*50C>A
XR_001753015.1:n.16G>T
XR_001753016.1:n.17G>T
XR_243646.4:n.1789C>A
NM_207346.3:c.1551C>A MANE Select	NP_997229.2:p.Asp517Glu