Canonical Allele Identifier: CA401031067

Gene: TSEN54

Linked Data

• dbSNP Id: rs1364229464
• gnomAD v2: 17-73520356-G-C
• gnomAD v4: 17-75524275-G-C
• MyVariant Identifiers: chr17:g.73520356G>C (hg19) ; chr17:g.75524275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524275G>C , CM000679.2:g.75524275G>C	GRCh38
NC_000017.10:g.73520356G>C , CM000679.1:g.73520356G>C	GRCh37
NC_000017.9:g.71031951G>C	NCBI36
NG_013041.1:g.12748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1444G>C MANE Select	ENSP00000327487.6:p.Val482Leu
ENST00000434205.8:c.1141G>C	ENSP00000406559.4:p.Val381Leu
ENST00000545228.3:c.1632G>C	ENSP00000438169.3:p.Leu544=
ENST00000577197.2:n.642G>C
ENST00000579449.2:n.2184G>C
ENST00000580013.6:n.2588G>C
ENST00000679370.1:n.2966G>C
ENST00000679429.1:c.*902G>C	ENSP00000505403.1:n.*902G>C
ENST00000679443.1:n.1513G>C
ENST00000679782.1:c.*143G>C	ENSP00000505995.1:n.*143G>C
ENST00000679919.1:n.1715G>C
ENST00000679928.1:c.*1996G>C	ENSP00000506071.1:n.*1996G>C
ENST00000680528.1:n.2410G>C
ENST00000680999.1:c.1657G>C	ENSP00000504984.1:p.Val553Leu
ENST00000681282.1:c.*1631G>C	ENSP00000506339.1:n.*1631G>C
ENST00000333213.10:c.1444G>C	ENSP00000327487.6:p.Val482Leu
ENST00000545228.2:c.721G>C
ENST00000577197.1:n.192G>C
ENST00000579449.1:n.641G>C
NM_207346.2:c.1444G>C	NP_997229.2:p.Val482Leu
XM_005257229.2:c.1632G>C	XP_005257286.1:p.Leu544=
XM_006721821.2:c.1329G>C	XP_006721884.1:p.Leu443=
XM_011524616.1:c.1515G>C	XP_011522918.1:p.Leu505=
XM_011524617.1:c.*26G>C	XP_011522919.1:n.*26G>C
XM_011524618.1:c.1327G>C	XP_011522920.1:p.Val443Leu
XR_243646.2:n.1676G>C
XM_005257229.4:c.1632G>C	XP_005257286.1:p.Leu544=
XR_001753015.1:n.87+36C>G
XR_001753016.1:n.88+36C>G
XR_243646.4:n.1682G>C
NM_207346.3:c.1444G>C MANE Select	NP_997229.2:p.Val482Leu