Canonical Allele Identifier: CA401031057

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524272-C-G
• MyVariant Identifiers: chr17:g.73520353C>G (hg19) ; chr17:g.75524272C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524272C>G , CM000679.2:g.75524272C>G	GRCh38
NC_000017.10:g.73520353C>G , CM000679.1:g.73520353C>G	GRCh37
NC_000017.9:g.71031948C>G	NCBI36
NG_013041.1:g.12745C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1441C>G MANE Select	ENSP00000327487.6:p.Pro481Ala
ENST00000434205.8:c.1138C>G	ENSP00000406559.4:p.Pro380Ala
ENST00000545228.3:c.1629C>G	ENSP00000438169.3:p.Ser543Arg
ENST00000577197.2:n.639C>G
ENST00000579449.2:n.2181C>G
ENST00000580013.6:n.2585C>G
ENST00000679370.1:n.2963C>G
ENST00000679429.1:c.*899C>G	ENSP00000505403.1:n.*899C>G
ENST00000679443.1:n.1510C>G
ENST00000679782.1:c.*140C>G	ENSP00000505995.1:n.*140C>G
ENST00000679919.1:n.1712C>G
ENST00000679928.1:c.*1993C>G	ENSP00000506071.1:n.*1993C>G
ENST00000680528.1:n.2407C>G
ENST00000680999.1:c.1654C>G	ENSP00000504984.1:p.Pro552Ala
ENST00000681282.1:c.*1628C>G	ENSP00000506339.1:n.*1628C>G
ENST00000333213.10:c.1441C>G	ENSP00000327487.6:p.Pro481Ala
ENST00000545228.2:c.718C>G
ENST00000577197.1:n.189C>G
ENST00000579449.1:n.638C>G
NM_207346.2:c.1441C>G	NP_997229.2:p.Pro481Ala
XM_005257229.2:c.1629C>G	XP_005257286.1:p.Ser543Arg
XM_006721821.2:c.1326C>G	XP_006721884.1:p.Ser442Arg
XM_011524616.1:c.1512C>G	XP_011522918.1:p.Ser504Arg
XM_011524617.1:c.*23C>G	XP_011522919.1:n.*23C>G
XM_011524618.1:c.1324C>G	XP_011522920.1:p.Pro442Ala
XR_243646.2:n.1673C>G
XM_005257229.4:c.1629C>G	XP_005257286.1:p.Ser543Arg
XR_001753015.1:n.87+39G>C
XR_001753016.1:n.88+39G>C
XR_243646.4:n.1679C>G
NM_207346.3:c.1441C>G MANE Select	NP_997229.2:p.Pro481Ala