Canonical Allele Identifier: CA8764200

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 437068
• ClinVar RCV Id: RCV000500592 ; RCV002524318
• dbSNP Id: rs376310114
• ExAC: 17:73517504 C / T
• gnomAD v2: 17-73517504-C-T
• gnomAD v3: 17-75521423-C-T
• gnomAD v4: 17-75521423-C-T
• MyVariant Identifiers: chr17:g.73517504C>T (hg19) ; chr17:g.75521423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521423C>T , CM000679.2:g.75521423C>T	GRCh38
NC_000017.10:g.73517504C>T , CM000679.1:g.73517504C>T	GRCh37
NC_000017.9:g.71029099C>T	NCBI36
NG_013041.1:g.9896C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.536C>T MANE Select	ENSP00000327487.6:p.Pro179Leu
ENST00000434205.8:c.233C>T	ENSP00000406559.4:p.Pro78Leu
ENST00000545228.3:c.536C>T	ENSP00000438169.3:p.Pro179Leu
ENST00000579449.2:n.335C>T
ENST00000580013.6:n.545C>T
ENST00000583818.2:c.590C>T	ENSP00000461928.2:n.590C>T
ENST00000679370.1:n.923C>T
ENST00000679429.1:c.528C>T	ENSP00000505403.1:p.Pro176=
ENST00000679443.1:n.411C>T
ENST00000679782.1:c.536C>T	ENSP00000505995.1:p.Pro179Leu
ENST00000679919.1:n.411C>T
ENST00000679928.1:c.*147C>T	ENSP00000506071.1:n.*147C>T
ENST00000680528.1:n.561C>T
ENST00000680999.1:c.536C>T	ENSP00000504984.1:p.Pro179Leu
ENST00000681282.1:c.536C>T	ENSP00000506339.1:p.Pro179Leu
ENST00000333213.10:c.536C>T	ENSP00000327487.6:p.Pro179Leu
ENST00000578415.1:c.496C>T
ENST00000580013.5:n.553C>T
ENST00000583173.5:c.371C>T	ENSP00000463619.1:p.Pro124Leu
ENST00000583818.1:c.485C>T	ENSP00000461928.1:n.485C>T
NM_207346.2:c.536C>T	NP_997229.2:p.Pro179Leu
XM_005257229.2:c.536C>T	XP_005257286.1:p.Pro179Leu
XM_006721821.2:c.233C>T	XP_006721884.1:p.Pro78Leu
XM_011524616.1:c.536C>T	XP_011522918.1:p.Pro179Leu
XM_011524617.1:c.536C>T	XP_011522919.1:p.Pro179Leu
XM_011524618.1:c.536C>T	XP_011522920.1:p.Pro179Leu
XR_243646.2:n.566C>T
XM_005257229.4:c.536C>T	XP_005257286.1:p.Pro179Leu
XR_243646.4:n.572C>T
NM_207346.3:c.536C>T MANE Select	NP_997229.2:p.Pro179Leu