Canonical Allele Identifier: CA401031279

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2437387
• ClinVar RCV Id: RCV003142890
• MyVariant Identifiers: chr17:g.73520415C>G (hg19) ; chr17:g.75524334C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524334C>G , CM000679.2:g.75524334C>G	GRCh38
NC_000017.10:g.73520415C>G , CM000679.1:g.73520415C>G	GRCh37
NC_000017.9:g.71032010C>G	NCBI36
NG_013041.1:g.12807C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1503C>G MANE Select	ENSP00000327487.6:p.Ile501Met
ENST00000434205.8:c.1200C>G	ENSP00000406559.4:p.Ile400Met
ENST00000545228.3:c.*2C>G	ENSP00000438169.3:n.*2C>G
ENST00000577197.2:n.701C>G
ENST00000579449.2:n.2243C>G
ENST00000580013.6:n.2647C>G
ENST00000679370.1:n.3025C>G
ENST00000679429.1:c.*961C>G	ENSP00000505403.1:n.*961C>G
ENST00000679443.1:n.1572C>G
ENST00000679782.1:c.*202C>G	ENSP00000505995.1:n.*202C>G
ENST00000679919.1:n.1774C>G
ENST00000679928.1:c.*2055C>G	ENSP00000506071.1:n.*2055C>G
ENST00000680528.1:n.2469C>G
ENST00000680999.1:c.1716C>G	ENSP00000504984.1:p.Ile572Met
ENST00000681282.1:c.*1690C>G	ENSP00000506339.1:n.*1690C>G
ENST00000333213.10:c.1503C>G	ENSP00000327487.6:p.Ile501Met
ENST00000545228.2:c.780C>G
ENST00000577197.1:n.251C>G
ENST00000579449.1:n.700C>G
NM_207346.2:c.1503C>G	NP_997229.2:p.Ile501Met
XM_005257229.2:c.*2C>G	XP_005257286.1:n.*2C>G
XM_006721821.2:c.*2C>G	XP_006721884.1:n.*2C>G
XM_011524616.1:c.*2C>G	XP_011522918.1:n.*2C>G
XM_011524617.1:c.*85C>G	XP_011522919.1:n.*85C>G
XM_011524618.1:c.1386C>G	XP_011522920.1:p.Ile462Met
XR_243646.2:n.1735C>G
XM_005257229.4:c.*2C>G	XP_005257286.1:n.*2C>G
XR_001753015.1:n.64G>C
XR_001753016.1:n.65G>C
XR_243646.4:n.1741C>G
NM_207346.3:c.1503C>G MANE Select	NP_997229.2:p.Ile501Met