Canonical Allele Identifier: CA401031162

Gene: TSEN54

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1472T>C MANE Select	ENSP00000327487.6:p.Leu491Ser
ENST00000434205.8:c.1169T>C	ENSP00000406559.4:p.Leu390Ser
ENST00000545228.3:c.1660T>C	ENSP00000438169.3:p.Cys554Arg
ENST00000577197.2:n.670T>C
ENST00000579449.2:n.2212T>C
ENST00000580013.6:n.2616T>C
ENST00000679370.1:n.2994T>C
ENST00000679429.1:c.*930T>C	ENSP00000505403.1:n.*930T>C
ENST00000679443.1:n.1541T>C
ENST00000679782.1:c.*171T>C	ENSP00000505995.1:n.*171T>C
ENST00000679919.1:n.1743T>C
ENST00000679928.1:c.*2024T>C	ENSP00000506071.1:n.*2024T>C
ENST00000680528.1:n.2438T>C
ENST00000680999.1:c.1685T>C	ENSP00000504984.1:p.Leu562Ser
ENST00000681282.1:c.*1659T>C	ENSP00000506339.1:n.*1659T>C
ENST00000333213.10:c.1472T>C	ENSP00000327487.6:p.Leu491Ser
ENST00000545228.2:c.749T>C
ENST00000577197.1:n.220T>C
ENST00000579449.1:n.669T>C
NM_207346.2:c.1472T>C	NP_997229.2:p.Leu491Ser
XM_005257229.2:c.1660T>C	XP_005257286.1:p.Cys554Arg
XM_006721821.2:c.1357T>C	XP_006721884.1:p.Cys453Arg
XM_011524616.1:c.1543T>C	XP_011522918.1:p.Cys515Arg
XM_011524617.1:c.*54T>C	XP_011522919.1:n.*54T>C
XM_011524618.1:c.1355T>C	XP_011522920.1:p.Leu452Ser
XR_243646.2:n.1704T>C
XM_005257229.4:c.1660T>C	XP_005257286.1:p.Cys554Arg
XR_001753015.1:n.87+8A>G
XR_001753016.1:n.88+8A>G
XR_243646.4:n.1710T>C
NM_207346.3:c.1472T>C MANE Select	NP_997229.2:p.Leu491Ser