Canonical Allele Identifier: CA401029281

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2051893
• ClinVar RCV Id: RCV002904948
• dbSNP Id: rs765825397
• gnomAD v3: 17-75521939-C-G
• gnomAD v4: 17-75521939-C-G
• MyVariant Identifiers: chr17:g.73518020C>G (hg19) ; chr17:g.75521939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521939C>G , CM000679.2:g.75521939C>G	GRCh38
NC_000017.10:g.73518020C>G , CM000679.1:g.73518020C>G	GRCh37
NC_000017.9:g.71029615C>G	NCBI36
NG_013041.1:g.10412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.858C>G MANE Select	ENSP00000327487.6:p.Asn286Lys
ENST00000434205.8:c.555C>G	ENSP00000406559.4:p.Asn185Lys
ENST00000545228.3:c.858C>G	ENSP00000438169.3:p.Asn286Lys
ENST00000579449.2:n.657C>G
ENST00000580013.6:n.1061C>G
ENST00000679370.1:n.1439C>G
ENST00000679429.1:c.*316C>G	ENSP00000505403.1:n.*316C>G
ENST00000679443.1:n.927C>G
ENST00000679782.1:c.858C>G	ENSP00000505995.1:p.Asn286Lys
ENST00000679919.1:n.927C>G
ENST00000679928.1:c.*469C>G	ENSP00000506071.1:n.*469C>G
ENST00000680528.1:n.883C>G
ENST00000680999.1:c.858C>G	ENSP00000504984.1:p.Asn286Lys
ENST00000681282.1:c.*104C>G	ENSP00000506339.1:n.*104C>G
ENST00000333213.10:c.858C>G	ENSP00000327487.6:p.Asn286Lys
ENST00000578415.1:c.818C>G
ENST00000583173.5:c.459-68C>G	ENSP00000463619.1:n.459-68C>G
NM_207346.2:c.858C>G	NP_997229.2:p.Asn286Lys
XM_005257229.2:c.858C>G	XP_005257286.1:p.Asn286Lys
XM_006721821.2:c.555C>G	XP_006721884.1:p.Asn185Lys
XM_011524616.1:c.858C>G	XP_011522918.1:p.Asn286Lys
XM_011524617.1:c.858C>G	XP_011522919.1:p.Asn286Lys
XM_011524618.1:c.858C>G	XP_011522920.1:p.Asn286Lys
XR_243646.2:n.888C>G
XM_005257229.4:c.858C>G	XP_005257286.1:p.Asn286Lys
XR_243646.4:n.894C>G
NM_207346.3:c.858C>G MANE Select	NP_997229.2:p.Asn286Lys