Canonical Allele Identifier: CA401031115

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520370C>G (hg19) ; chr17:g.75524289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524289C>G , CM000679.2:g.75524289C>G	GRCh38
NC_000017.10:g.73520370C>G , CM000679.1:g.73520370C>G	GRCh37
NC_000017.9:g.71031965C>G	NCBI36
NG_013041.1:g.12762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1458C>G MANE Select	ENSP00000327487.6:p.Cys486Trp
ENST00000434205.8:c.1155C>G	ENSP00000406559.4:p.Cys385Trp
ENST00000545228.3:c.1646C>G	ENSP00000438169.3:p.Ala549Gly
ENST00000577197.2:n.656C>G
ENST00000579449.2:n.2198C>G
ENST00000580013.6:n.2602C>G
ENST00000679370.1:n.2980C>G
ENST00000679429.1:c.*916C>G	ENSP00000505403.1:n.*916C>G
ENST00000679443.1:n.1527C>G
ENST00000679782.1:c.*157C>G	ENSP00000505995.1:n.*157C>G
ENST00000679919.1:n.1729C>G
ENST00000679928.1:c.*2010C>G	ENSP00000506071.1:n.*2010C>G
ENST00000680528.1:n.2424C>G
ENST00000680999.1:c.1671C>G	ENSP00000504984.1:p.Cys557Trp
ENST00000681282.1:c.*1645C>G	ENSP00000506339.1:n.*1645C>G
ENST00000333213.10:c.1458C>G	ENSP00000327487.6:p.Cys486Trp
ENST00000545228.2:c.735C>G
ENST00000577197.1:n.206C>G
ENST00000579449.1:n.655C>G
NM_207346.2:c.1458C>G	NP_997229.2:p.Cys486Trp
XM_005257229.2:c.1646C>G	XP_005257286.1:p.Ala549Gly
XM_006721821.2:c.1343C>G	XP_006721884.1:p.Ala448Gly
XM_011524616.1:c.1529C>G	XP_011522918.1:p.Ala510Gly
XM_011524617.1:c.*40C>G	XP_011522919.1:n.*40C>G
XM_011524618.1:c.1341C>G	XP_011522920.1:p.Cys447Trp
XR_243646.2:n.1690C>G
XM_005257229.4:c.1646C>G	XP_005257286.1:p.Ala549Gly
XR_001753015.1:n.87+22G>C
XR_001753016.1:n.88+22G>C
XR_243646.4:n.1696C>G
NM_207346.3:c.1458C>G MANE Select	NP_997229.2:p.Cys486Trp