Canonical Allele Identifier: CA8764456

Gene: TSEN54

Linked Data

• dbSNP Id: rs565515125
• ExAC: 17:73520376 C / T
• gnomAD v2: 17-73520376-C-T
• gnomAD v3: 17-75524295-C-T
• gnomAD v4: 17-75524295-C-T
• MyVariant Identifiers: chr17:g.73520376C>T (hg19) ; chr17:g.75524295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524295C>T , CM000679.2:g.75524295C>T	GRCh38
NC_000017.10:g.73520376C>T , CM000679.1:g.73520376C>T	GRCh37
NC_000017.9:g.71031971C>T	NCBI36
NG_013041.1:g.12768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1464C>T MANE Select	ENSP00000327487.6:p.Leu488=
ENST00000434205.8:c.1161C>T	ENSP00000406559.4:p.Leu387=
ENST00000545228.3:c.1652C>T	ENSP00000438169.3:p.Ser551Leu
ENST00000577197.2:n.662C>T
ENST00000579449.2:n.2204C>T
ENST00000580013.6:n.2608C>T
ENST00000679370.1:n.2986C>T
ENST00000679429.1:c.*922C>T	ENSP00000505403.1:n.*922C>T
ENST00000679443.1:n.1533C>T
ENST00000679782.1:c.*163C>T	ENSP00000505995.1:n.*163C>T
ENST00000679919.1:n.1735C>T
ENST00000679928.1:c.*2016C>T	ENSP00000506071.1:n.*2016C>T
ENST00000680528.1:n.2430C>T
ENST00000680999.1:c.1677C>T	ENSP00000504984.1:p.Leu559=
ENST00000681282.1:c.*1651C>T	ENSP00000506339.1:n.*1651C>T
ENST00000333213.10:c.1464C>T	ENSP00000327487.6:p.Leu488=
ENST00000545228.2:c.741C>T
ENST00000577197.1:n.212C>T
ENST00000579449.1:n.661C>T
NM_207346.2:c.1464C>T	NP_997229.2:p.Leu488=
XM_005257229.2:c.1652C>T	XP_005257286.1:p.Ser551Leu
XM_006721821.2:c.1349C>T	XP_006721884.1:p.Ser450Leu
XM_011524616.1:c.1535C>T	XP_011522918.1:p.Ser512Leu
XM_011524617.1:c.*46C>T	XP_011522919.1:n.*46C>T
XM_011524618.1:c.1347C>T	XP_011522920.1:p.Leu449=
XR_243646.2:n.1696C>T
XM_005257229.4:c.1652C>T	XP_005257286.1:p.Ser551Leu
XR_001753015.1:n.87+16G>A
XR_001753016.1:n.88+16G>A
XR_243646.4:n.1702C>T
NM_207346.3:c.1464C>T MANE Select	NP_997229.2:p.Leu488=