Canonical Allele Identifier: CA502045888

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2887521
• ClinVar RCV Id: RCV003722403
• dbSNP Id: rs2053429112
• gnomAD v2: 17-73517831-C-G
• gnomAD v3: 17-75521750-C-G
• gnomAD v4: 17-75521750-C-G
• MyVariant Identifiers: chr17:g.73517831C>G (hg19) ; chr17:g.73517831_73517833delinsGAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521750C>G , CM000679.2:g.75521750C>G	GRCh38
NC_000017.10:g.73517831C>G , CM000679.1:g.73517831C>G	GRCh37
NC_000017.9:g.71029426C>G	NCBI36
NG_013041.1:g.10223C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.669C>G MANE Select	ENSP00000327487.6:p.Pro223=
ENST00000434205.8:c.366C>G	ENSP00000406559.4:p.Pro122=
ENST00000545228.3:c.669C>G	ENSP00000438169.3:p.Pro223=
ENST00000579449.2:n.468C>G
ENST00000580013.6:n.872C>G
ENST00000583818.2:c.723C>G	ENSP00000461928.2:n.723C>G
ENST00000679370.1:n.1250C>G
ENST00000679429.1:c.*127C>G	ENSP00000505403.1:n.*127C>G
ENST00000679443.1:n.738C>G
ENST00000679782.1:c.669C>G	ENSP00000505995.1:p.Pro223=
ENST00000679919.1:n.738C>G
ENST00000679928.1:c.*280C>G	ENSP00000506071.1:n.*280C>G
ENST00000680528.1:n.694C>G
ENST00000680999.1:c.669C>G	ENSP00000504984.1:p.Pro223=
ENST00000681282.1:c.698C>G	ENSP00000506339.1:p.Pro233Arg
ENST00000333213.10:c.669C>G	ENSP00000327487.6:p.Pro223=
ENST00000578415.1:c.629C>G
ENST00000583173.5:c.458+240C>G	ENSP00000463619.1:n.458+240C>G
ENST00000583818.1:c.618C>G	ENSP00000461928.1:n.618C>G
NM_207346.2:c.669C>G	NP_997229.2:p.Pro223=
XM_005257229.2:c.669C>G	XP_005257286.1:p.Pro223=
XM_006721821.2:c.366C>G	XP_006721884.1:p.Pro122=
XM_011524616.1:c.669C>G	XP_011522918.1:p.Pro223=
XM_011524617.1:c.669C>G	XP_011522919.1:p.Pro223=
XM_011524618.1:c.669C>G	XP_011522920.1:p.Pro223=
XR_243646.2:n.699C>G
XM_005257229.4:c.669C>G	XP_005257286.1:p.Pro223=
XR_243646.4:n.705C>G
NM_207346.3:c.669C>G MANE Select	NP_997229.2:p.Pro223=