Canonical Allele Identifier: CA8764462

Gene: TSEN54

Linked Data

• dbSNP Id: rs750809505
• ExAC: 17:73520407 C / T
• gnomAD v2: 17-73520407-C-T
• gnomAD v4: 17-75524326-C-T
• MyVariant Identifiers: chr17:g.73520407C>T (hg19) ; chr17:g.75524326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524326C>T , CM000679.2:g.75524326C>T	GRCh38
NC_000017.10:g.73520407C>T , CM000679.1:g.73520407C>T	GRCh37
NC_000017.9:g.71032002C>T	NCBI36
NG_013041.1:g.12799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1495C>T MANE Select	ENSP00000327487.6:p.Pro499Ser
ENST00000434205.8:c.1192C>T	ENSP00000406559.4:p.Pro398Ser
ENST00000545228.3:c.1683C>T	ENSP00000438169.3:p.Ser561=
ENST00000577197.2:n.693C>T
ENST00000579449.2:n.2235C>T
ENST00000580013.6:n.2639C>T
ENST00000679370.1:n.3017C>T
ENST00000679429.1:c.*953C>T	ENSP00000505403.1:n.*953C>T
ENST00000679443.1:n.1564C>T
ENST00000679782.1:c.*194C>T	ENSP00000505995.1:n.*194C>T
ENST00000679919.1:n.1766C>T
ENST00000679928.1:c.*2047C>T	ENSP00000506071.1:n.*2047C>T
ENST00000680528.1:n.2461C>T
ENST00000680999.1:c.1708C>T	ENSP00000504984.1:p.Pro570Ser
ENST00000681282.1:c.*1682C>T	ENSP00000506339.1:n.*1682C>T
ENST00000333213.10:c.1495C>T	ENSP00000327487.6:p.Pro499Ser
ENST00000545228.2:c.772C>T
ENST00000577197.1:n.243C>T
ENST00000579449.1:n.692C>T
NM_207346.2:c.1495C>T	NP_997229.2:p.Pro499Ser
XM_005257229.2:c.1683C>T	XP_005257286.1:p.Ser561=
XM_006721821.2:c.1380C>T	XP_006721884.1:p.Ser460=
XM_011524616.1:c.1566C>T	XP_011522918.1:p.Ser522=
XM_011524617.1:c.*77C>T	XP_011522919.1:n.*77C>T
XM_011524618.1:c.1378C>T	XP_011522920.1:p.Pro460Ser
XR_243646.2:n.1727C>T
XM_005257229.4:c.1683C>T	XP_005257286.1:p.Ser561=
XR_001753015.1:n.72G>A
XR_001753016.1:n.73G>A
XR_243646.4:n.1733C>T
NM_207346.3:c.1495C>T MANE Select	NP_997229.2:p.Pro499Ser