Canonical Allele Identifier: CA502045870
Gene: TSEN54 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.73518068C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521987C>G , CM000679.2:g.75521987C>G GRCh38
NC_000017.10:g.73518068C>G , CM000679.1:g.73518068C>G GRCh37
NC_000017.9:g.71029663C>G NCBI36
NG_013041.1:g.10460C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.906C>G MANE Select ENSP00000327487.6:p.Ser302=
ENST00000434205.8:c.603C>G ENSP00000406559.4:p.Ser201=
ENST00000545228.3:c.906C>G ENSP00000438169.3:p.Ser302=
ENST00000579449.2:n.705C>G
ENST00000580013.6:n.1109C>G
ENST00000679370.1:n.1487C>G
ENST00000679429.1:c.*364C>G ENSP00000505403.1:n.*364C>G
ENST00000679443.1:n.975C>G
ENST00000679782.1:c.906C>G ENSP00000505995.1:p.Ser302=
ENST00000679919.1:n.975C>G
ENST00000679928.1:c.*517C>G ENSP00000506071.1:n.*517C>G
ENST00000680528.1:n.931C>G
ENST00000680999.1:c.906C>G ENSP00000504984.1:p.Ser302=
ENST00000681282.1:c.*152C>G ENSP00000506339.1:n.*152C>G
ENST00000333213.10:c.906C>G ENSP00000327487.6:p.Ser302=
ENST00000578415.1:c.866C>G
ENST00000583173.5:c.459-20C>G ENSP00000463619.1:n.459-20C>G
NM_207346.2:c.906C>G NP_997229.2:p.Ser302=
XM_005257229.2:c.906C>G XP_005257286.1:p.Ser302=
XM_006721821.2:c.603C>G XP_006721884.1:p.Ser201=
XM_011524616.1:c.906C>G XP_011522918.1:p.Ser302=
XM_011524617.1:c.906C>G XP_011522919.1:p.Ser302=
XM_011524618.1:c.906C>G XP_011522920.1:p.Ser302=
XR_243646.2:n.936C>G
XM_005257229.4:c.906C>G XP_005257286.1:p.Ser302=
XR_243646.4:n.942C>G
NM_207346.3:c.906C>G MANE Select NP_997229.2:p.Ser302=