Canonical Allele Identifier: CA8764257

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2895449
• ClinVar RCV Id: RCV003728443
• dbSNP Id: rs768278898
• ExAC: 17:73517897 C / T
• gnomAD v2: 17-73517897-C-T
• gnomAD v4: 17-75521816-C-T
• MyVariant Identifiers: chr17:g.73517897C>T (hg19) ; chr17:g.75521816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521816C>T , CM000679.2:g.75521816C>T	GRCh38
NC_000017.10:g.73517897C>T , CM000679.1:g.73517897C>T	GRCh37
NC_000017.9:g.71029492C>T	NCBI36
NG_013041.1:g.10289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.735C>T MANE Select	ENSP00000327487.6:p.Pro245=
ENST00000434205.8:c.432C>T	ENSP00000406559.4:p.Pro144=
ENST00000545228.3:c.735C>T	ENSP00000438169.3:p.Pro245=
ENST00000579449.2:n.534C>T
ENST00000580013.6:n.938C>T
ENST00000583818.2:c.789C>T	ENSP00000461928.2:n.789C>T
ENST00000679370.1:n.1316C>T
ENST00000679429.1:c.*193C>T	ENSP00000505403.1:n.*193C>T
ENST00000679443.1:n.804C>T
ENST00000679782.1:c.735C>T	ENSP00000505995.1:p.Pro245=
ENST00000679919.1:n.804C>T
ENST00000679928.1:c.*346C>T	ENSP00000506071.1:n.*346C>T
ENST00000680528.1:n.760C>T
ENST00000680999.1:c.735C>T	ENSP00000504984.1:p.Pro245=
ENST00000681282.1:c.764C>T	ENSP00000506339.1:p.Pro255Leu
ENST00000333213.10:c.735C>T	ENSP00000327487.6:p.Pro245=
ENST00000578415.1:c.695C>T
ENST00000583173.5:c.459-191C>T	ENSP00000463619.1:n.459-191C>T
ENST00000583818.1:c.684C>T	ENSP00000461928.1:n.684C>T
NM_207346.2:c.735C>T	NP_997229.2:p.Pro245=
XM_005257229.2:c.735C>T	XP_005257286.1:p.Pro245=
XM_006721821.2:c.432C>T	XP_006721884.1:p.Pro144=
XM_011524616.1:c.735C>T	XP_011522918.1:p.Pro245=
XM_011524617.1:c.735C>T	XP_011522919.1:p.Pro245=
XM_011524618.1:c.735C>T	XP_011522920.1:p.Pro245=
XR_243646.2:n.765C>T
XM_005257229.4:c.735C>T	XP_005257286.1:p.Pro245=
XR_243646.4:n.771C>T
NM_207346.3:c.735C>T MANE Select	NP_997229.2:p.Pro245=