Canonical Allele Identifier: CA501819551

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520475C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524394C>G , CM000679.2:g.75524394C>G	GRCh38
NC_000017.10:g.73520475C>G , CM000679.1:g.73520475C>G	GRCh37
NC_000017.9:g.71032070C>G	NCBI36
NG_013041.1:g.12867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1563C>G MANE Select	ENSP00000327487.6:p.Pro521=
ENST00000434205.8:c.1260C>G	ENSP00000406559.4:p.Pro420=
ENST00000545228.3:c.*62C>G	ENSP00000438169.3:n.*62C>G
ENST00000577197.2:n.761C>G
ENST00000579449.2:n.2303C>G
ENST00000580013.6:n.2707C>G
ENST00000679370.1:n.3085C>G
ENST00000679429.1:c.*1021C>G	ENSP00000505403.1:n.*1021C>G
ENST00000679443.1:n.1632C>G
ENST00000679782.1:c.*262C>G	ENSP00000505995.1:n.*262C>G
ENST00000679919.1:n.1834C>G
ENST00000679928.1:c.*2115C>G	ENSP00000506071.1:n.*2115C>G
ENST00000680528.1:n.2529C>G
ENST00000680999.1:c.1776C>G	ENSP00000504984.1:p.Pro592=
ENST00000681282.1:c.*1750C>G	ENSP00000506339.1:n.*1750C>G
ENST00000333213.10:c.1563C>G	ENSP00000327487.6:p.Pro521=
ENST00000545228.2:c.840C>G
ENST00000577197.1:n.311C>G
ENST00000579449.1:n.760C>G
NM_207346.2:c.1563C>G	NP_997229.2:p.Pro521=
XM_005257229.2:c.*62C>G	XP_005257286.1:n.*62C>G
XM_006721821.2:c.*62C>G	XP_006721884.1:n.*62C>G
XM_011524616.1:c.*62C>G	XP_011522918.1:n.*62C>G
XM_011524618.1:c.1446C>G	XP_011522920.1:p.Pro482=
XR_243646.2:n.1795C>G
XM_005257229.4:c.*62C>G	XP_005257286.1:n.*62C>G
XR_001753015.1:n.4G>C
XR_001753016.1:n.5G>C
XR_243646.4:n.1801C>G
NM_207346.3:c.1563C>G MANE Select	NP_997229.2:p.Pro521=