Canonical Allele Identifier: CA501818973
Gene: TSEN54 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.73515078C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75518997C>G , CM000679.2:g.75518997C>G GRCh38
NC_000017.10:g.73515078C>G , CM000679.1:g.73515078C>G GRCh37
NC_000017.9:g.71026673C>G NCBI36
NG_013041.1:g.7470C>G
NG_033152.1:g.1587G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.471C>G MANE Select ENSP00000327487.6:p.Val157=
ENST00000434205.8:c.168C>G ENSP00000406559.4:p.Val56=
ENST00000545228.3:c.471C>G ENSP00000438169.3:p.Val157=
ENST00000579449.2:n.270C>G
ENST00000580013.6:n.480C>G
ENST00000583818.2:c.471C>G ENSP00000461928.2:p.Val157=
ENST00000679370.1:n.858C>G
ENST00000679429.1:c.469-6C>G ENSP00000505403.1:n.469-6C>G
ENST00000679443.1:n.346C>G
ENST00000679782.1:c.471C>G ENSP00000505995.1:p.Val157=
ENST00000679919.1:n.346C>G
ENST00000679928.1:c.471C>G ENSP00000506071.1:p.Val157=
ENST00000680528.1:n.496C>G
ENST00000680999.1:c.471C>G ENSP00000504984.1:p.Val157=
ENST00000681282.1:c.471C>G ENSP00000506339.1:p.Val157=
ENST00000333213.10:c.471C>G ENSP00000327487.6:p.Val157=
ENST00000434205.7:c.168C>G ENSP00000406559.3:p.Val56=
ENST00000578415.1:c.431C>G
ENST00000580013.5:n.494-6C>G
ENST00000583173.5:c.306C>G ENSP00000463619.1:p.Val102=
ENST00000583818.1:c.366C>G ENSP00000461928.1:p.Val122=
NM_207346.2:c.471C>G NP_997229.2:p.Val157=
XM_005257229.2:c.471C>G XP_005257286.1:p.Val157=
XM_006721821.2:c.168C>G XP_006721884.1:p.Val56=
XM_011524616.1:c.471C>G XP_011522918.1:p.Val157=
XM_011524617.1:c.471C>G XP_011522919.1:p.Val157=
XM_011524618.1:c.471C>G XP_011522920.1:p.Val157=
XR_243646.2:n.501C>G
XM_005257229.4:c.471C>G XP_005257286.1:p.Val157=
XR_243646.4:n.507C>G
NM_207346.3:c.471C>G MANE Select NP_997229.2:p.Val157=