Canonical Allele Identifier: CA401031299

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520420C>G (hg19) ; chr17:g.75524339C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524339C>G , CM000679.2:g.75524339C>G	GRCh38
NC_000017.10:g.73520420C>G , CM000679.1:g.73520420C>G	GRCh37
NC_000017.9:g.71032015C>G	NCBI36
NG_013041.1:g.12812C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1508C>G MANE Select	ENSP00000327487.6:p.Ala503Gly
ENST00000434205.8:c.1205C>G	ENSP00000406559.4:p.Ala402Gly
ENST00000545228.3:c.*7C>G	ENSP00000438169.3:n.*7C>G
ENST00000577197.2:n.706C>G
ENST00000579449.2:n.2248C>G
ENST00000580013.6:n.2652C>G
ENST00000679370.1:n.3030C>G
ENST00000679429.1:c.*966C>G	ENSP00000505403.1:n.*966C>G
ENST00000679443.1:n.1577C>G
ENST00000679782.1:c.*207C>G	ENSP00000505995.1:n.*207C>G
ENST00000679919.1:n.1779C>G
ENST00000679928.1:c.*2060C>G	ENSP00000506071.1:n.*2060C>G
ENST00000680528.1:n.2474C>G
ENST00000680999.1:c.1721C>G	ENSP00000504984.1:p.Ala574Gly
ENST00000681282.1:c.*1695C>G	ENSP00000506339.1:n.*1695C>G
ENST00000333213.10:c.1508C>G	ENSP00000327487.6:p.Ala503Gly
ENST00000545228.2:c.785C>G
ENST00000577197.1:n.256C>G
ENST00000579449.1:n.705C>G
NM_207346.2:c.1508C>G	NP_997229.2:p.Ala503Gly
XM_005257229.2:c.*7C>G	XP_005257286.1:n.*7C>G
XM_006721821.2:c.*7C>G	XP_006721884.1:n.*7C>G
XM_011524616.1:c.*7C>G	XP_011522918.1:n.*7C>G
XM_011524617.1:c.*90C>G	XP_011522919.1:n.*90C>G
XM_011524618.1:c.1391C>G	XP_011522920.1:p.Ala464Gly
XR_243646.2:n.1740C>G
XM_005257229.4:c.*7C>G	XP_005257286.1:n.*7C>G
XR_001753015.1:n.59G>C
XR_001753016.1:n.60G>C
XR_243646.4:n.1746C>G
NM_207346.3:c.1508C>G MANE Select	NP_997229.2:p.Ala503Gly