Canonical Allele Identifier: CA8764259

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 890244
• ClinVar RCV Id: RCV001124680
• dbSNP Id: rs761784110
• ExAC: 17:73517907 A / C
• gnomAD v2: 17-73517907-A-C
• gnomAD v3: 17-75521826-A-C
• gnomAD v4: 17-75521826-A-C
• MyVariant Identifiers: chr17:g.73517907A>C (hg19) ; chr17:g.75521826A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521826A>C , CM000679.2:g.75521826A>C	GRCh38
NC_000017.10:g.73517907A>C , CM000679.1:g.73517907A>C	GRCh37
NC_000017.9:g.71029502A>C	NCBI36
NG_013041.1:g.10299A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.745A>C MANE Select	ENSP00000327487.6:p.Ser249Arg
ENST00000434205.8:c.442A>C	ENSP00000406559.4:p.Ser148Arg
ENST00000545228.3:c.745A>C	ENSP00000438169.3:p.Ser249Arg
ENST00000579449.2:n.544A>C
ENST00000580013.6:n.948A>C
ENST00000583818.2:c.799A>C	ENSP00000461928.2:n.799A>C
ENST00000679370.1:n.1326A>C
ENST00000679429.1:c.*203A>C	ENSP00000505403.1:n.*203A>C
ENST00000679443.1:n.814A>C
ENST00000679782.1:c.745A>C	ENSP00000505995.1:p.Ser249Arg
ENST00000679919.1:n.814A>C
ENST00000679928.1:c.*356A>C	ENSP00000506071.1:n.*356A>C
ENST00000680528.1:n.770A>C
ENST00000680999.1:c.745A>C	ENSP00000504984.1:p.Ser249Arg
ENST00000681282.1:c.774A>C	ENSP00000506339.1:p.Gln258His
ENST00000333213.10:c.745A>C	ENSP00000327487.6:p.Ser249Arg
ENST00000578415.1:c.705A>C
ENST00000583173.5:c.459-181A>C	ENSP00000463619.1:n.459-181A>C
ENST00000583818.1:c.694A>C	ENSP00000461928.1:n.694A>C
NM_207346.2:c.745A>C	NP_997229.2:p.Ser249Arg
XM_005257229.2:c.745A>C	XP_005257286.1:p.Ser249Arg
XM_006721821.2:c.442A>C	XP_006721884.1:p.Ser148Arg
XM_011524616.1:c.745A>C	XP_011522918.1:p.Ser249Arg
XM_011524617.1:c.745A>C	XP_011522919.1:p.Ser249Arg
XM_011524618.1:c.745A>C	XP_011522920.1:p.Ser249Arg
XR_243646.2:n.775A>C
XM_005257229.4:c.745A>C	XP_005257286.1:p.Ser249Arg
XR_243646.4:n.781A>C
NM_207346.3:c.745A>C MANE Select	NP_997229.2:p.Ser249Arg