Canonical Allele Identifier: CA2639835718

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524227-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524227T>C , CM000679.2:g.75524227T>C	GRCh38
NC_000017.10:g.73520308T>C , CM000679.1:g.73520308T>C	GRCh37
NC_000017.9:g.71031903T>C	NCBI36
NG_013041.1:g.12700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1431-35T>C MANE Select	ENSP00000327487.6:n.1431-35T>C
ENST00000434205.8:c.1128-35T>C	ENSP00000406559.4:n.1128-35T>C
ENST00000545228.3:c.1619-35T>C	ENSP00000438169.3:n.1619-35T>C
ENST00000577197.2:n.629-35T>C
ENST00000579449.2:n.2171-35T>C
ENST00000580013.6:n.2575-35T>C
ENST00000679370.1:n.2953-35T>C
ENST00000679429.1:c.*889-35T>C	ENSP00000505403.1:n.*889-35T>C
ENST00000679443.1:n.1500-35T>C
ENST00000679782.1:c.*130-35T>C	ENSP00000505995.1:n.*130-35T>C
ENST00000679919.1:n.1702-35T>C
ENST00000679928.1:c.*1983-35T>C	ENSP00000506071.1:n.*1983-35T>C
ENST00000680528.1:n.2397-35T>C
ENST00000680999.1:c.1644-35T>C	ENSP00000504984.1:n.1644-35T>C
ENST00000681282.1:c.*1618-35T>C	ENSP00000506339.1:n.*1618-35T>C
ENST00000333213.10:c.1431-35T>C	ENSP00000327487.6:n.1431-35T>C
ENST00000545228.2:c.708-35T>C
ENST00000577197.1:n.179-35T>C
ENST00000579449.1:n.628-35T>C
NM_207346.2:c.1431-35T>C	NP_997229.2:n.1431-35T>C
XM_005257229.2:c.1619-35T>C	XP_005257286.1:n.1619-35T>C
XM_006721821.2:c.1316-35T>C	XP_006721884.1:n.1316-35T>C
XM_011524616.1:c.1502-35T>C	XP_011522918.1:n.1502-35T>C
XM_011524617.1:c.*13-35T>C	XP_011522919.1:n.*13-35T>C
XM_011524618.1:c.1314-35T>C	XP_011522920.1:n.1314-35T>C
XR_243646.2:n.1663-35T>C
XM_005257229.4:c.1619-35T>C	XP_005257286.1:n.1619-35T>C
XR_001753015.1:n.87+84A>G
XR_001753016.1:n.88+84A>G
XR_243646.4:n.1669-35T>C
NM_207346.3:c.1431-35T>C MANE Select	NP_997229.2:n.1431-35T>C