Canonical Allele Identifier: CA401031112

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520369G>C (hg19) ; chr17:g.75524288G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524288G>C , CM000679.2:g.75524288G>C	GRCh38
NC_000017.10:g.73520369G>C , CM000679.1:g.73520369G>C	GRCh37
NC_000017.9:g.71031964G>C	NCBI36
NG_013041.1:g.12761G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1457G>C MANE Select	ENSP00000327487.6:p.Cys486Ser
ENST00000434205.8:c.1154G>C	ENSP00000406559.4:p.Cys385Ser
ENST00000545228.3:c.1645G>C	ENSP00000438169.3:p.Ala549Pro
ENST00000577197.2:n.655G>C
ENST00000579449.2:n.2197G>C
ENST00000580013.6:n.2601G>C
ENST00000679370.1:n.2979G>C
ENST00000679429.1:c.*915G>C	ENSP00000505403.1:n.*915G>C
ENST00000679443.1:n.1526G>C
ENST00000679782.1:c.*156G>C	ENSP00000505995.1:n.*156G>C
ENST00000679919.1:n.1728G>C
ENST00000679928.1:c.*2009G>C	ENSP00000506071.1:n.*2009G>C
ENST00000680528.1:n.2423G>C
ENST00000680999.1:c.1670G>C	ENSP00000504984.1:p.Cys557Ser
ENST00000681282.1:c.*1644G>C	ENSP00000506339.1:n.*1644G>C
ENST00000333213.10:c.1457G>C	ENSP00000327487.6:p.Cys486Ser
ENST00000545228.2:c.734G>C
ENST00000577197.1:n.205G>C
ENST00000579449.1:n.654G>C
NM_207346.2:c.1457G>C	NP_997229.2:p.Cys486Ser
XM_005257229.2:c.1645G>C	XP_005257286.1:p.Ala549Pro
XM_006721821.2:c.1342G>C	XP_006721884.1:p.Ala448Pro
XM_011524616.1:c.1528G>C	XP_011522918.1:p.Ala510Pro
XM_011524617.1:c.*39G>C	XP_011522919.1:n.*39G>C
XM_011524618.1:c.1340G>C	XP_011522920.1:p.Cys447Ser
XR_243646.2:n.1689G>C
XM_005257229.4:c.1645G>C	XP_005257286.1:p.Ala549Pro
XR_001753015.1:n.87+23C>G
XR_001753016.1:n.88+23C>G
XR_243646.4:n.1695G>C
NM_207346.3:c.1457G>C MANE Select	NP_997229.2:p.Cys486Ser