Canonical Allele Identifier: CA501819434

Gene: TSEN54

Linked Data

• dbSNP Id: rs1478018901
• gnomAD v2: 17-73520400-G-A
• gnomAD v4: 17-75524319-G-A
• MyVariant Identifiers: chr17:g.73520400G>A (hg19) ; chr17:g.75524319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524319G>A , CM000679.2:g.75524319G>A	GRCh38
NC_000017.10:g.73520400G>A , CM000679.1:g.73520400G>A	GRCh37
NC_000017.9:g.71031995G>A	NCBI36
NG_013041.1:g.12792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1488G>A MANE Select	ENSP00000327487.6:p.Gly496=
ENST00000434205.8:c.1185G>A	ENSP00000406559.4:p.Gly395=
ENST00000545228.3:c.1676G>A	ENSP00000438169.3:p.Gly559Glu
ENST00000577197.2:n.686G>A
ENST00000579449.2:n.2228G>A
ENST00000580013.6:n.2632G>A
ENST00000679370.1:n.3010G>A
ENST00000679429.1:c.*946G>A	ENSP00000505403.1:n.*946G>A
ENST00000679443.1:n.1557G>A
ENST00000679782.1:c.*187G>A	ENSP00000505995.1:n.*187G>A
ENST00000679919.1:n.1759G>A
ENST00000679928.1:c.*2040G>A	ENSP00000506071.1:n.*2040G>A
ENST00000680528.1:n.2454G>A
ENST00000680999.1:c.1701G>A	ENSP00000504984.1:p.Gly567=
ENST00000681282.1:c.*1675G>A	ENSP00000506339.1:n.*1675G>A
ENST00000333213.10:c.1488G>A	ENSP00000327487.6:p.Gly496=
ENST00000545228.2:c.765G>A
ENST00000577197.1:n.236G>A
ENST00000579449.1:n.685G>A
NM_207346.2:c.1488G>A	NP_997229.2:p.Gly496=
XM_005257229.2:c.1676G>A	XP_005257286.1:p.Gly559Glu
XM_006721821.2:c.1373G>A	XP_006721884.1:p.Gly458Glu
XM_011524616.1:c.1559G>A	XP_011522918.1:p.Gly520Glu
XM_011524617.1:c.*70G>A	XP_011522919.1:n.*70G>A
XM_011524618.1:c.1371G>A	XP_011522920.1:p.Gly457=
XR_243646.2:n.1720G>A
XM_005257229.4:c.1676G>A	XP_005257286.1:p.Gly559Glu
XR_001753015.1:n.79C>T
XR_001753016.1:n.80C>T
XR_243646.4:n.1726G>A
NM_207346.3:c.1488G>A MANE Select	NP_997229.2:p.Gly496=