Canonical Allele Identifier: CA401031282

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520416T>C (hg19) ; chr17:g.75524335T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524335T>C , CM000679.2:g.75524335T>C	GRCh38
NC_000017.10:g.73520416T>C , CM000679.1:g.73520416T>C	GRCh37
NC_000017.9:g.71032011T>C	NCBI36
NG_013041.1:g.12808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1504T>C MANE Select	ENSP00000327487.6:p.Phe502Leu
ENST00000434205.8:c.1201T>C	ENSP00000406559.4:p.Phe401Leu
ENST00000545228.3:c.*3T>C	ENSP00000438169.3:n.*3T>C
ENST00000577197.2:n.702T>C
ENST00000579449.2:n.2244T>C
ENST00000580013.6:n.2648T>C
ENST00000679370.1:n.3026T>C
ENST00000679429.1:c.*962T>C	ENSP00000505403.1:n.*962T>C
ENST00000679443.1:n.1573T>C
ENST00000679782.1:c.*203T>C	ENSP00000505995.1:n.*203T>C
ENST00000679919.1:n.1775T>C
ENST00000679928.1:c.*2056T>C	ENSP00000506071.1:n.*2056T>C
ENST00000680528.1:n.2470T>C
ENST00000680999.1:c.1717T>C	ENSP00000504984.1:p.Phe573Leu
ENST00000681282.1:c.*1691T>C	ENSP00000506339.1:n.*1691T>C
ENST00000333213.10:c.1504T>C	ENSP00000327487.6:p.Phe502Leu
ENST00000545228.2:c.781T>C
ENST00000577197.1:n.252T>C
ENST00000579449.1:n.701T>C
NM_207346.2:c.1504T>C	NP_997229.2:p.Phe502Leu
XM_005257229.2:c.*3T>C	XP_005257286.1:n.*3T>C
XM_006721821.2:c.*3T>C	XP_006721884.1:n.*3T>C
XM_011524616.1:c.*3T>C	XP_011522918.1:n.*3T>C
XM_011524617.1:c.*86T>C	XP_011522919.1:n.*86T>C
XM_011524618.1:c.1387T>C	XP_011522920.1:p.Phe463Leu
XR_243646.2:n.1736T>C
XM_005257229.4:c.*3T>C	XP_005257286.1:n.*3T>C
XR_001753015.1:n.63A>G
XR_001753016.1:n.64A>G
XR_243646.4:n.1742T>C
NM_207346.3:c.1504T>C MANE Select	NP_997229.2:p.Phe502Leu