Canonical Allele Identifier: CA501819367

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524299-C-A
• MyVariant Identifiers: chr17:g.73520380C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524299C>A , CM000679.2:g.75524299C>A	GRCh38
NC_000017.10:g.73520380C>A , CM000679.1:g.73520380C>A	GRCh37
NC_000017.9:g.71031975C>A	NCBI36
NG_013041.1:g.12772C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1468C>A MANE Select	ENSP00000327487.6:p.Arg490=
ENST00000434205.8:c.1165C>A	ENSP00000406559.4:p.Arg389=
ENST00000545228.3:c.1656C>A	ENSP00000438169.3:p.Ser552Arg
ENST00000577197.2:n.666C>A
ENST00000579449.2:n.2208C>A
ENST00000580013.6:n.2612C>A
ENST00000679370.1:n.2990C>A
ENST00000679429.1:c.*926C>A	ENSP00000505403.1:n.*926C>A
ENST00000679443.1:n.1537C>A
ENST00000679782.1:c.*167C>A	ENSP00000505995.1:n.*167C>A
ENST00000679919.1:n.1739C>A
ENST00000679928.1:c.*2020C>A	ENSP00000506071.1:n.*2020C>A
ENST00000680528.1:n.2434C>A
ENST00000680999.1:c.1681C>A	ENSP00000504984.1:p.Arg561=
ENST00000681282.1:c.*1655C>A	ENSP00000506339.1:n.*1655C>A
ENST00000333213.10:c.1468C>A	ENSP00000327487.6:p.Arg490=
ENST00000545228.2:c.745C>A
ENST00000577197.1:n.216C>A
ENST00000579449.1:n.665C>A
NM_207346.2:c.1468C>A	NP_997229.2:p.Arg490=
XM_005257229.2:c.1656C>A	XP_005257286.1:p.Ser552Arg
XM_006721821.2:c.1353C>A	XP_006721884.1:p.Ser451Arg
XM_011524616.1:c.1539C>A	XP_011522918.1:p.Ser513Arg
XM_011524617.1:c.*50C>A	XP_011522919.1:n.*50C>A
XM_011524618.1:c.1351C>A	XP_011522920.1:p.Arg451=
XR_243646.2:n.1700C>A
XM_005257229.4:c.1656C>A	XP_005257286.1:p.Ser552Arg
XR_001753015.1:n.87+12G>T
XR_001753016.1:n.88+12G>T
XR_243646.4:n.1706C>A
NM_207346.3:c.1468C>A MANE Select	NP_997229.2:p.Arg490=