Canonical Allele Identifier: CA294079065

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 502457
• ClinVar RCV Id: RCV000598441
• dbSNP Id: rs1040846492
• gnomAD v4: 17-75521904-G-C
• MyVariant Identifiers: chr17:g.73517985G>C (hg19) ; chr17:g.75521904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521904G>C , CM000679.2:g.75521904G>C	GRCh38
NC_000017.10:g.73517985G>C , CM000679.1:g.73517985G>C	GRCh37
NC_000017.9:g.71029580G>C	NCBI36
NG_013041.1:g.10377G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.823G>C MANE Select	ENSP00000327487.6:p.Val275Leu
ENST00000434205.8:c.520G>C	ENSP00000406559.4:p.Val174Leu
ENST00000545228.3:c.823G>C	ENSP00000438169.3:p.Val275Leu
ENST00000579449.2:n.622G>C
ENST00000580013.6:n.1026G>C
ENST00000679370.1:n.1404G>C
ENST00000679429.1:c.*281G>C	ENSP00000505403.1:n.*281G>C
ENST00000679443.1:n.892G>C
ENST00000679782.1:c.823G>C	ENSP00000505995.1:p.Val275Leu
ENST00000679919.1:n.892G>C
ENST00000679928.1:c.*434G>C	ENSP00000506071.1:n.*434G>C
ENST00000680528.1:n.848G>C
ENST00000680999.1:c.823G>C	ENSP00000504984.1:p.Val275Leu
ENST00000681282.1:c.*69G>C	ENSP00000506339.1:n.*69G>C
ENST00000333213.10:c.823G>C	ENSP00000327487.6:p.Val275Leu
ENST00000578415.1:c.783G>C
ENST00000583173.5:c.459-103G>C	ENSP00000463619.1:n.459-103G>C
NM_207346.2:c.823G>C	NP_997229.2:p.Val275Leu
XM_005257229.2:c.823G>C	XP_005257286.1:p.Val275Leu
XM_006721821.2:c.520G>C	XP_006721884.1:p.Val174Leu
XM_011524616.1:c.823G>C	XP_011522918.1:p.Val275Leu
XM_011524617.1:c.823G>C	XP_011522919.1:p.Val275Leu
XM_011524618.1:c.823G>C	XP_011522920.1:p.Val275Leu
XR_243646.2:n.853G>C
XM_005257229.4:c.823G>C	XP_005257286.1:p.Val275Leu
XR_243646.4:n.859G>C
NM_207346.3:c.823G>C MANE Select	NP_997229.2:p.Val275Leu