Canonical Allele Identifier: CA401031286

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520417T>C (hg19) ; chr17:g.75524336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524336T>C , CM000679.2:g.75524336T>C	GRCh38
NC_000017.10:g.73520417T>C , CM000679.1:g.73520417T>C	GRCh37
NC_000017.9:g.71032012T>C	NCBI36
NG_013041.1:g.12809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1505T>C MANE Select	ENSP00000327487.6:p.Phe502Ser
ENST00000434205.8:c.1202T>C	ENSP00000406559.4:p.Phe401Ser
ENST00000545228.3:c.*4T>C	ENSP00000438169.3:n.*4T>C
ENST00000577197.2:n.703T>C
ENST00000579449.2:n.2245T>C
ENST00000580013.6:n.2649T>C
ENST00000679370.1:n.3027T>C
ENST00000679429.1:c.*963T>C	ENSP00000505403.1:n.*963T>C
ENST00000679443.1:n.1574T>C
ENST00000679782.1:c.*204T>C	ENSP00000505995.1:n.*204T>C
ENST00000679919.1:n.1776T>C
ENST00000679928.1:c.*2057T>C	ENSP00000506071.1:n.*2057T>C
ENST00000680528.1:n.2471T>C
ENST00000680999.1:c.1718T>C	ENSP00000504984.1:p.Phe573Ser
ENST00000681282.1:c.*1692T>C	ENSP00000506339.1:n.*1692T>C
ENST00000333213.10:c.1505T>C	ENSP00000327487.6:p.Phe502Ser
ENST00000545228.2:c.782T>C
ENST00000577197.1:n.253T>C
ENST00000579449.1:n.702T>C
NM_207346.2:c.1505T>C	NP_997229.2:p.Phe502Ser
XM_005257229.2:c.*4T>C	XP_005257286.1:n.*4T>C
XM_006721821.2:c.*4T>C	XP_006721884.1:n.*4T>C
XM_011524616.1:c.*4T>C	XP_011522918.1:n.*4T>C
XM_011524617.1:c.*87T>C	XP_011522919.1:n.*87T>C
XM_011524618.1:c.1388T>C	XP_011522920.1:p.Phe463Ser
XR_243646.2:n.1737T>C
XM_005257229.4:c.*4T>C	XP_005257286.1:n.*4T>C
XR_001753015.1:n.62A>G
XR_001753016.1:n.63A>G
XR_243646.4:n.1743T>C
NM_207346.3:c.1505T>C MANE Select	NP_997229.2:p.Phe502Ser