Canonical Allele Identifier: CA401031018

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520344T>C (hg19) ; chr17:g.75524263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524263T>C , CM000679.2:g.75524263T>C	GRCh38
NC_000017.10:g.73520344T>C , CM000679.1:g.73520344T>C	GRCh37
NC_000017.9:g.71031939T>C	NCBI36
NG_013041.1:g.12736T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1432T>C MANE Select	ENSP00000327487.6:p.Phe478Leu
ENST00000434205.8:c.1129T>C	ENSP00000406559.4:p.Phe377Leu
ENST00000545228.3:c.1620T>C	ENSP00000438169.3:p.Asp540=
ENST00000577197.2:n.630T>C
ENST00000579449.2:n.2172T>C
ENST00000580013.6:n.2576T>C
ENST00000679370.1:n.2954T>C
ENST00000679429.1:c.*890T>C	ENSP00000505403.1:n.*890T>C
ENST00000679443.1:n.1501T>C
ENST00000679782.1:c.*131T>C	ENSP00000505995.1:n.*131T>C
ENST00000679919.1:n.1703T>C
ENST00000679928.1:c.*1984T>C	ENSP00000506071.1:n.*1984T>C
ENST00000680528.1:n.2398T>C
ENST00000680999.1:c.1645T>C	ENSP00000504984.1:p.Phe549Leu
ENST00000681282.1:c.*1619T>C	ENSP00000506339.1:n.*1619T>C
ENST00000333213.10:c.1432T>C	ENSP00000327487.6:p.Phe478Leu
ENST00000545228.2:c.709T>C
ENST00000577197.1:n.180T>C
ENST00000579449.1:n.629T>C
NM_207346.2:c.1432T>C	NP_997229.2:p.Phe478Leu
XM_005257229.2:c.1620T>C	XP_005257286.1:p.Asp540=
XM_006721821.2:c.1317T>C	XP_006721884.1:p.Asp439=
XM_011524616.1:c.1503T>C	XP_011522918.1:p.Asp501=
XM_011524617.1:c.*14T>C	XP_011522919.1:n.*14T>C
XM_011524618.1:c.1315T>C	XP_011522920.1:p.Phe439Leu
XR_243646.2:n.1664T>C
XM_005257229.4:c.1620T>C	XP_005257286.1:p.Asp540=
XR_001753015.1:n.87+48A>G
XR_001753016.1:n.88+48A>G
XR_243646.4:n.1670T>C
NM_207346.3:c.1432T>C MANE Select	NP_997229.2:p.Phe478Leu