Canonical Allele Identifier: CA401031087

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2324101
• ClinVar RCV Id: RCV002911401
• dbSNP Id: rs1394346106
• gnomAD v3: 17-75524282-A-G
• gnomAD v4: 17-75524282-A-G
• MyVariant Identifiers: chr17:g.73520363A>G (hg19) ; chr17:g.75524282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524282A>G , CM000679.2:g.75524282A>G	GRCh38
NC_000017.10:g.73520363A>G , CM000679.1:g.73520363A>G	GRCh37
NC_000017.9:g.71031958A>G	NCBI36
NG_013041.1:g.12755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1451A>G MANE Select	ENSP00000327487.6:p.Asp484Gly
ENST00000434205.8:c.1148A>G	ENSP00000406559.4:p.Asp383Gly
ENST00000545228.3:c.1639A>G	ENSP00000438169.3:p.Thr547Ala
ENST00000577197.2:n.649A>G
ENST00000579449.2:n.2191A>G
ENST00000580013.6:n.2595A>G
ENST00000679370.1:n.2973A>G
ENST00000679429.1:c.*909A>G	ENSP00000505403.1:n.*909A>G
ENST00000679443.1:n.1520A>G
ENST00000679782.1:c.*150A>G	ENSP00000505995.1:n.*150A>G
ENST00000679919.1:n.1722A>G
ENST00000679928.1:c.*2003A>G	ENSP00000506071.1:n.*2003A>G
ENST00000680528.1:n.2417A>G
ENST00000680999.1:c.1664A>G	ENSP00000504984.1:p.Asp555Gly
ENST00000681282.1:c.*1638A>G	ENSP00000506339.1:n.*1638A>G
ENST00000333213.10:c.1451A>G	ENSP00000327487.6:p.Asp484Gly
ENST00000545228.2:c.728A>G
ENST00000577197.1:n.199A>G
ENST00000579449.1:n.648A>G
NM_207346.2:c.1451A>G	NP_997229.2:p.Asp484Gly
XM_005257229.2:c.1639A>G	XP_005257286.1:p.Thr547Ala
XM_006721821.2:c.1336A>G	XP_006721884.1:p.Thr446Ala
XM_011524616.1:c.1522A>G	XP_011522918.1:p.Thr508Ala
XM_011524617.1:c.*33A>G	XP_011522919.1:n.*33A>G
XM_011524618.1:c.1334A>G	XP_011522920.1:p.Asp445Gly
XR_243646.2:n.1683A>G
XM_005257229.4:c.1639A>G	XP_005257286.1:p.Thr547Ala
XR_001753015.1:n.87+29T>C
XR_001753016.1:n.88+29T>C
XR_243646.4:n.1689A>G
NM_207346.3:c.1451A>G MANE Select	NP_997229.2:p.Asp484Gly