Canonical Allele Identifier: CA173704

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 160123
• ClinVar RCV Id: RCV000147767 ; RCV000295979 ; RCV000990060 ; RCV000713892 ; RCV001840052 ; RCV001840053
• dbSNP Id: rs9911502
• ExAC: 17:73518203 G / C
• gnomAD v2: 17-73518203-G-C
• gnomAD v3: 17-75522122-G-C
• gnomAD v4: 17-75522122-G-C
• MyVariant Identifiers: chr17:g.73518203G>C (hg19) ; chr17:g.75522122G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522122G>C , CM000679.2:g.75522122G>C	GRCh38
NC_000017.10:g.73518203G>C , CM000679.1:g.73518203G>C	GRCh37
NC_000017.9:g.71029798G>C	NCBI36
NG_013041.1:g.10595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1041G>C MANE Select	ENSP00000327487.6:p.Lys347Asn
ENST00000434205.8:c.738G>C	ENSP00000406559.4:p.Lys246Asn
ENST00000545228.3:c.1041G>C	ENSP00000438169.3:p.Lys347Asn
ENST00000579449.2:n.840G>C
ENST00000580013.6:n.1244G>C
ENST00000679370.1:n.1622G>C
ENST00000679429.1:c.*499G>C	ENSP00000505403.1:n.*499G>C
ENST00000679443.1:n.1110G>C
ENST00000679782.1:c.1041G>C	ENSP00000505995.1:p.Lys347Asn
ENST00000679919.1:n.1110G>C
ENST00000679928.1:c.*652G>C	ENSP00000506071.1:n.*652G>C
ENST00000680528.1:n.1066G>C
ENST00000680999.1:c.1041G>C	ENSP00000504984.1:p.Lys347Asn
ENST00000681282.1:c.*287G>C	ENSP00000506339.1:n.*287G>C
ENST00000333213.10:c.1041G>C	ENSP00000327487.6:p.Lys347Asn
ENST00000545228.2:c.130G>C
ENST00000583173.5:c.574G>C	ENSP00000463619.1:n.574G>C
NM_207346.2:c.1041G>C	NP_997229.2:p.Lys347Asn
XM_005257229.2:c.1041G>C	XP_005257286.1:p.Lys347Asn
XM_006721821.2:c.738G>C	XP_006721884.1:p.Lys246Asn
XM_011524616.1:c.1041G>C	XP_011522918.1:p.Lys347Asn
XM_011524617.1:c.1041G>C	XP_011522919.1:p.Lys347Asn
XM_011524618.1:c.1041G>C	XP_011522920.1:p.Lys347Asn
XR_243646.2:n.1071G>C
XM_005257229.4:c.1041G>C	XP_005257286.1:p.Lys347Asn
XR_243646.4:n.1077G>C
NM_207346.3:c.1041G>C MANE Select	NP_997229.2:p.Lys347Asn