Canonical Allele Identifier: CA401031520

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520483T>C (hg19) ; chr17:g.75524402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524402T>C , CM000679.2:g.75524402T>C	GRCh38
NC_000017.10:g.73520483T>C , CM000679.1:g.73520483T>C	GRCh37
NC_000017.9:g.71032078T>C	NCBI36
NG_013041.1:g.12875T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1571T>C MANE Select	ENSP00000327487.6:p.Val524Ala
ENST00000434205.8:c.1268T>C	ENSP00000406559.4:p.Val423Ala
ENST00000545228.3:c.*70T>C	ENSP00000438169.3:n.*70T>C
ENST00000577197.2:n.769T>C
ENST00000579449.2:n.2311T>C
ENST00000580013.6:n.2715T>C
ENST00000679370.1:n.3093T>C
ENST00000679429.1:c.*1029T>C	ENSP00000505403.1:n.*1029T>C
ENST00000679443.1:n.1640T>C
ENST00000679782.1:c.*270T>C	ENSP00000505995.1:n.*270T>C
ENST00000679919.1:n.1842T>C
ENST00000679928.1:c.*2123T>C	ENSP00000506071.1:n.*2123T>C
ENST00000680528.1:n.2537T>C
ENST00000680999.1:c.1784T>C	ENSP00000504984.1:p.Val595Ala
ENST00000681282.1:c.*1758T>C	ENSP00000506339.1:n.*1758T>C
ENST00000333213.10:c.1571T>C	ENSP00000327487.6:p.Val524Ala
ENST00000545228.2:c.848T>C
ENST00000577197.1:n.319T>C
ENST00000579449.1:n.768T>C
NM_207346.2:c.1571T>C	NP_997229.2:p.Val524Ala
XM_005257229.2:c.*70T>C	XP_005257286.1:n.*70T>C
XM_006721821.2:c.*70T>C	XP_006721884.1:n.*70T>C
XM_011524616.1:c.*70T>C	XP_011522918.1:n.*70T>C
XM_011524618.1:c.1454T>C	XP_011522920.1:p.Val485Ala
XR_243646.2:n.1803T>C
XM_005257229.4:c.*70T>C	XP_005257286.1:n.*70T>C
XR_243646.4:n.1809T>C
NM_207346.3:c.1571T>C MANE Select	NP_997229.2:p.Val524Ala