Canonical Allele Identifier: CA173738

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 160137
• ClinVar RCV Id: RCV000147788 ; RCV001711414
• dbSNP Id: rs73998306
• ExAC: 17:73517749 A / C
• gnomAD v2: 17-73517749-A-C
• gnomAD v3: 17-75521668-A-C
• gnomAD v4: 17-75521668-A-C
• MyVariant Identifiers: chr17:g.73517749A>C (hg19) ; chr17:g.75521668A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521668A>C , CM000679.2:g.75521668A>C	GRCh38
NC_000017.10:g.73517749A>C , CM000679.1:g.73517749A>C	GRCh37
NC_000017.9:g.71029344A>C	NCBI36
NG_013041.1:g.10141A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.624-37A>C MANE Select	ENSP00000327487.6:n.624-37A>C
ENST00000434205.8:c.321-37A>C	ENSP00000406559.4:n.321-37A>C
ENST00000545228.3:c.624-37A>C	ENSP00000438169.3:n.624-37A>C
ENST00000579449.2:n.423-37A>C
ENST00000580013.6:n.790A>C
ENST00000583818.2:c.678-37A>C	ENSP00000461928.2:n.678-37A>C
ENST00000679370.1:n.1168A>C
ENST00000679429.1:c.*82-37A>C	ENSP00000505403.1:n.*82-37A>C
ENST00000679443.1:n.656A>C
ENST00000679782.1:c.624-37A>C	ENSP00000505995.1:n.624-37A>C
ENST00000679919.1:n.656A>C
ENST00000679928.1:c.*235-37A>C	ENSP00000506071.1:n.*235-37A>C
ENST00000680528.1:n.649-37A>C
ENST00000680999.1:c.624-37A>C	ENSP00000504984.1:n.624-37A>C
ENST00000681282.1:c.624-8A>C	ENSP00000506339.1:n.624-8A>C
ENST00000333213.10:c.624-37A>C	ENSP00000327487.6:n.624-37A>C
ENST00000578415.1:c.584-37A>C
ENST00000583173.5:c.458+158A>C	ENSP00000463619.1:n.458+158A>C
ENST00000583818.1:c.573-37A>C	ENSP00000461928.1:n.573-37A>C
NM_207346.2:c.624-37A>C	NP_997229.2:n.624-37A>C
XM_005257229.2:c.624-37A>C	XP_005257286.1:n.624-37A>C
XM_006721821.2:c.321-37A>C	XP_006721884.1:n.321-37A>C
XM_011524616.1:c.624-37A>C	XP_011522918.1:n.624-37A>C
XM_011524617.1:c.624-37A>C	XP_011522919.1:n.624-37A>C
XM_011524618.1:c.624-37A>C	XP_011522920.1:n.624-37A>C
XR_243646.2:n.654-37A>C
XM_005257229.4:c.624-37A>C	XP_005257286.1:n.624-37A>C
XR_243646.4:n.660-37A>C
NM_207346.3:c.624-37A>C MANE Select	NP_997229.2:n.624-37A>C