Canonical Allele Identifier: CA401031089

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520363A>C (hg19) ; chr17:g.75524282A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524282A>C , CM000679.2:g.75524282A>C	GRCh38
NC_000017.10:g.73520363A>C , CM000679.1:g.73520363A>C	GRCh37
NC_000017.9:g.71031958A>C	NCBI36
NG_013041.1:g.12755A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1451A>C MANE Select	ENSP00000327487.6:p.Asp484Ala
ENST00000434205.8:c.1148A>C	ENSP00000406559.4:p.Asp383Ala
ENST00000545228.3:c.1639A>C	ENSP00000438169.3:p.Thr547Pro
ENST00000577197.2:n.649A>C
ENST00000579449.2:n.2191A>C
ENST00000580013.6:n.2595A>C
ENST00000679370.1:n.2973A>C
ENST00000679429.1:c.*909A>C	ENSP00000505403.1:n.*909A>C
ENST00000679443.1:n.1520A>C
ENST00000679782.1:c.*150A>C	ENSP00000505995.1:n.*150A>C
ENST00000679919.1:n.1722A>C
ENST00000679928.1:c.*2003A>C	ENSP00000506071.1:n.*2003A>C
ENST00000680528.1:n.2417A>C
ENST00000680999.1:c.1664A>C	ENSP00000504984.1:p.Asp555Ala
ENST00000681282.1:c.*1638A>C	ENSP00000506339.1:n.*1638A>C
ENST00000333213.10:c.1451A>C	ENSP00000327487.6:p.Asp484Ala
ENST00000545228.2:c.728A>C
ENST00000577197.1:n.199A>C
ENST00000579449.1:n.648A>C
NM_207346.2:c.1451A>C	NP_997229.2:p.Asp484Ala
XM_005257229.2:c.1639A>C	XP_005257286.1:p.Thr547Pro
XM_006721821.2:c.1336A>C	XP_006721884.1:p.Thr446Pro
XM_011524616.1:c.1522A>C	XP_011522918.1:p.Thr508Pro
XM_011524617.1:c.*33A>C	XP_011522919.1:n.*33A>C
XM_011524618.1:c.1334A>C	XP_011522920.1:p.Asp445Ala
XR_243646.2:n.1683A>C
XM_005257229.4:c.1639A>C	XP_005257286.1:p.Thr547Pro
XR_001753015.1:n.87+29T>G
XR_001753016.1:n.88+29T>G
XR_243646.4:n.1689A>C
NM_207346.3:c.1451A>C MANE Select	NP_997229.2:p.Asp484Ala