Canonical Allele Identifier: CA401031452

Gene: TSEN54

Linked Data

• COSMIC: COSM3522139
• MyVariant Identifiers: chr17:g.73520462A>G (hg19) ; chr17:g.75524381A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524381A>G , CM000679.2:g.75524381A>G	GRCh38
NC_000017.10:g.73520462A>G , CM000679.1:g.73520462A>G	GRCh37
NC_000017.9:g.71032057A>G	NCBI36
NG_013041.1:g.12854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1550A>G MANE Select	ENSP00000327487.6:p.Asp517Gly
ENST00000434205.8:c.1247A>G	ENSP00000406559.4:p.Asp416Gly
ENST00000545228.3:c.*49A>G	ENSP00000438169.3:n.*49A>G
ENST00000577197.2:n.748A>G
ENST00000579449.2:n.2290A>G
ENST00000580013.6:n.2694A>G
ENST00000679370.1:n.3072A>G
ENST00000679429.1:c.*1008A>G	ENSP00000505403.1:n.*1008A>G
ENST00000679443.1:n.1619A>G
ENST00000679782.1:c.*249A>G	ENSP00000505995.1:n.*249A>G
ENST00000679919.1:n.1821A>G
ENST00000679928.1:c.*2102A>G	ENSP00000506071.1:n.*2102A>G
ENST00000680528.1:n.2516A>G
ENST00000680999.1:c.1763A>G	ENSP00000504984.1:p.Asp588Gly
ENST00000681282.1:c.*1737A>G	ENSP00000506339.1:n.*1737A>G
ENST00000333213.10:c.1550A>G	ENSP00000327487.6:p.Asp517Gly
ENST00000545228.2:c.827A>G
ENST00000577197.1:n.298A>G
ENST00000579449.1:n.747A>G
NM_207346.2:c.1550A>G	NP_997229.2:p.Asp517Gly
XM_005257229.2:c.*49A>G	XP_005257286.1:n.*49A>G
XM_006721821.2:c.*49A>G	XP_006721884.1:n.*49A>G
XM_011524616.1:c.*49A>G	XP_011522918.1:n.*49A>G
XM_011524618.1:c.1433A>G	XP_011522920.1:p.Asp478Gly
XR_243646.2:n.1782A>G
XM_005257229.4:c.*49A>G	XP_005257286.1:n.*49A>G
XR_001753015.1:n.17T>C
XR_001753016.1:n.18T>C
XR_243646.4:n.1788A>G
NM_207346.3:c.1550A>G MANE Select	NP_997229.2:p.Asp517Gly