Canonical Allele Identifier: CA401031163

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520384T>G (hg19) ; chr17:g.75524303T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524303T>G , CM000679.2:g.75524303T>G	GRCh38
NC_000017.10:g.73520384T>G , CM000679.1:g.73520384T>G	GRCh37
NC_000017.9:g.71031979T>G	NCBI36
NG_013041.1:g.12776T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1472T>G MANE Select	ENSP00000327487.6:p.Leu491Trp
ENST00000434205.8:c.1169T>G	ENSP00000406559.4:p.Leu390Trp
ENST00000545228.3:c.1660T>G	ENSP00000438169.3:p.Cys554Gly
ENST00000577197.2:n.670T>G
ENST00000579449.2:n.2212T>G
ENST00000580013.6:n.2616T>G
ENST00000679370.1:n.2994T>G
ENST00000679429.1:c.*930T>G	ENSP00000505403.1:n.*930T>G
ENST00000679443.1:n.1541T>G
ENST00000679782.1:c.*171T>G	ENSP00000505995.1:n.*171T>G
ENST00000679919.1:n.1743T>G
ENST00000679928.1:c.*2024T>G	ENSP00000506071.1:n.*2024T>G
ENST00000680528.1:n.2438T>G
ENST00000680999.1:c.1685T>G	ENSP00000504984.1:p.Leu562Trp
ENST00000681282.1:c.*1659T>G	ENSP00000506339.1:n.*1659T>G
ENST00000333213.10:c.1472T>G	ENSP00000327487.6:p.Leu491Trp
ENST00000545228.2:c.749T>G
ENST00000577197.1:n.220T>G
ENST00000579449.1:n.669T>G
NM_207346.2:c.1472T>G	NP_997229.2:p.Leu491Trp
XM_005257229.2:c.1660T>G	XP_005257286.1:p.Cys554Gly
XM_006721821.2:c.1357T>G	XP_006721884.1:p.Cys453Gly
XM_011524616.1:c.1543T>G	XP_011522918.1:p.Cys515Gly
XM_011524617.1:c.*54T>G	XP_011522919.1:n.*54T>G
XM_011524618.1:c.1355T>G	XP_011522920.1:p.Leu452Trp
XR_243646.2:n.1704T>G
XM_005257229.4:c.1660T>G	XP_005257286.1:p.Cys554Gly
XR_001753015.1:n.87+8A>C
XR_001753016.1:n.88+8A>C
XR_243646.4:n.1710T>G
NM_207346.3:c.1472T>G MANE Select	NP_997229.2:p.Leu491Trp