Canonical Allele Identifier: CA294080843

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 437067
• ClinVar RCV Id: RCV000503661 ; RCV003708534
• dbSNP Id: rs762414335
• gnomAD v4: 17-75524274-T-C
• MyVariant Identifiers: chr17:g.73520355T>C (hg19) ; chr17:g.75524274T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524274T>C , CM000679.2:g.75524274T>C	GRCh38
NC_000017.10:g.73520355T>C , CM000679.1:g.73520355T>C	GRCh37
NC_000017.9:g.71031950T>C	NCBI36
NG_013041.1:g.12747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1443T>C MANE Select	ENSP00000327487.6:p.Pro481=
ENST00000434205.8:c.1140T>C	ENSP00000406559.4:p.Pro380=
ENST00000545228.3:c.1631T>C	ENSP00000438169.3:p.Leu544Pro
ENST00000577197.2:n.641T>C
ENST00000579449.2:n.2183T>C
ENST00000580013.6:n.2587T>C
ENST00000679370.1:n.2965T>C
ENST00000679429.1:c.*901T>C	ENSP00000505403.1:n.*901T>C
ENST00000679443.1:n.1512T>C
ENST00000679782.1:c.*142T>C	ENSP00000505995.1:n.*142T>C
ENST00000679919.1:n.1714T>C
ENST00000679928.1:c.*1995T>C	ENSP00000506071.1:n.*1995T>C
ENST00000680528.1:n.2409T>C
ENST00000680999.1:c.1656T>C	ENSP00000504984.1:p.Pro552=
ENST00000681282.1:c.*1630T>C	ENSP00000506339.1:n.*1630T>C
ENST00000333213.10:c.1443T>C	ENSP00000327487.6:p.Pro481=
ENST00000545228.2:c.720T>C
ENST00000577197.1:n.191T>C
ENST00000579449.1:n.640T>C
NM_207346.2:c.1443T>C	NP_997229.2:p.Pro481=
XM_005257229.2:c.1631T>C	XP_005257286.1:p.Leu544Pro
XM_006721821.2:c.1328T>C	XP_006721884.1:p.Leu443Pro
XM_011524616.1:c.1514T>C	XP_011522918.1:p.Leu505Pro
XM_011524617.1:c.*25T>C	XP_011522919.1:n.*25T>C
XM_011524618.1:c.1326T>C	XP_011522920.1:p.Pro442=
XR_243646.2:n.1675T>C
XM_005257229.4:c.1631T>C	XP_005257286.1:p.Leu544Pro
XR_001753015.1:n.87+37A>G
XR_001753016.1:n.88+37A>G
XR_243646.4:n.1681T>C
NM_207346.3:c.1443T>C MANE Select	NP_997229.2:p.Pro481=